chr11:534289:C>T Detail (hg38) (HRAS, LRRC56)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:534,289-534,289 View the variant detail on this assembly version. |
| hg38 | chr11:534,289-534,289 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001318054.1:c.34G>A | NP_001304983.1:p.Gly12Ser |
| NM_176795.4:c.34G>A | NP_789765.1:p.Gly12Ser | |
| NM_001130442.2:c.34G>A | NP_001123914.1:p.Gly12Ser |
Summary
MGeND
| Clinical significance |
Likely pathogenic
Pathogenic
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
|
Likely pathogenic
|
neuroblastoma |
germline
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000178) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
other |
germline
|
MGS000073
(TMGS000185) |
Kenjiro Kosaki |
Keio University IRUD |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2017-04-03 | reviewed by expert panel | Costello syndrome |
de novo
germline
unknown
|
Detail |
|
Pathogenic
|
2014-04-01 | no assertion criteria provided | Myopathy, congenital, with excess of muscle spindles |
unknown
|
Detail |
|
Pathogenic
|
2014-04-01 | no assertion criteria provided | Epidermal nevus with urothelial cancer, somatic |
somatic
|
Detail |
|
Pathogenic
|
2014-04-01 | no assertion criteria provided |
somatic
|
Detail | |
|
Pathogenic
|
2021-03-10 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
no assertion criteria provided | RASopathy |
unknown
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Nasopharyngeal neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Thyroid tumor |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma, sporadic |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | myelodysplastic syndrome |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | adenoid cystic carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
somatic
|
Detail |
|
Pathogenic
|
2014-04-01 | no assertion criteria provided | Wooly hair nevus |
somatic
|
Detail |
|
Pathogenic
|
2019-04-30 | no assertion criteria provided | Lip and oral cavity carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2020-09-01 | no assertion criteria provided | rhabdomyosarcoma |
germline
|
Detail |
|
Pathogenic
|
2016-12-19 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-08-08 | criteria provided, single submitter |
germline
|
Detail | |
|
Pathogenic
|
2022-12-21 | criteria provided, single submitter |
unknown
|
Detail | |
|
Pathogenic
|
2024-01-29 | criteria provided, single submitter | HRAS-related disorder |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided | Noonan syndrome 1 |
de novo
|
Detail | |
|
Pathogenic
|
2023-09-07 | criteria provided, single submitter | epidermal nevus |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.455 | Costello syndrome (disorder) | We have observed unusual transverse distal phalangeal creases in two patients, o... | BeFree | 17324647 | Detail |
| 0.455 | Costello syndrome (disorder) | Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. | BeFree | 16881968 | Detail |
| 0.122 | Costello syndrome (disorder) | We have observed unusual transverse distal phalangeal creases in two patients, o... | BeFree | 17324647 | Detail |
| 0.265 | Noonan syndrome | We have observed unusual transverse distal phalangeal creases in two patients, o... | BeFree | 17324647 | Detail |
| 0.455 | Costello syndrome (disorder) | Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. | BeFree | 20979192 | Detail |
| 0.455 | Costello syndrome (disorder) | Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inhe... | BeFree | 19206176 | Detail |
| 0.121 | Noonan syndrome | We have observed unusual transverse distal phalangeal creases in two patients, o... | BeFree | 17324647 | Detail |
| 0.455 | Costello syndrome (disorder) | Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. | BeFree | 21834037 | Detail |
| 0.121 | Cardio-facio-cutaneous syndrome | We have observed unusual transverse distal phalangeal creases in two patients, o... | BeFree | 17324647 | Detail |
| 0.455 | Costello syndrome (disorder) | Two cases with severe lethal course of Costello syndrome associated with HRAS p.... | BeFree | 22926243 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Costello syndrome | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Myopathy, congenital, with excess of muscle spindles | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Epidermal nevus with urothelial cancer, somatic | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Nevus sebaceous | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND not provided | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND RASopathy | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Nasopharyngeal neoplasm | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Thyroid tumor | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Breast neoplasm | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Papillary renal cell carcinoma, sporadic | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Glioblastoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Multiple myeloma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Myelodysplastic syndrome | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Adenoid cystic carcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Wooly hair nevus | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Lip and oral cavity carcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Rhabdomyosarcoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND See cases | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND HRAS-related disorder | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Noonan syndrome 1 | ClinVar | Detail |
| NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Epidermal nevus | ClinVar | Detail |
| We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... | DisGeNET | Detail |
| Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. | DisGeNET | Detail |
| We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... | DisGeNET | Detail |
| We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... | DisGeNET | Detail |
| Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. | DisGeNET | Detail |
| Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father ... | DisGeNET | Detail |
| We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... | DisGeNET | Detail |
| Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. | DisGeNET | Detail |
| We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... | DisGeNET | Detail |
| Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs104894229 dbSNP
- Genome
- hg38
- Position
- chr11:534,289-534,289
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser