chr12:25209904:T>A Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,362,838-25,362,838 View the variant detail on this assembly version.
hg38 chr12:25,209,904-25,209,904

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.458A>T NP_004976.2:p.Asp153Val
NM_033360.3:c.458A>T NP_203524.1:p.Asp153Val
Ensemble ENST00000256078.10:c.*12A>T
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 190070 OMIM
HGNC 6407 HGNC
Ensembl ENSG00000133703 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1676793 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cardiofaciocutaneous syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000183) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2006-03-01 no assertion criteria provided cardiofaciocutaneous syndrome 2 germline Detail
Pathogenic 2023-10-09 criteria provided, multiple submitters, no conflicts Noonan syndrome 3 de novo germline Detail
Pathogenic 2023-08-01 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2023-06-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-04-20 criteria provided, single submitter not specified germline Detail
Pathogenic 2018-11-15 reviewed by expert panel Noonan syndrome germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Carcinoma of pancreas,autoimmune lymphoproliferative syndrome type 4,Familial cancer of breast,acute myeloid leukemia,Hereditary diffuse gastric adenocarcinoma,lung carcinoma,linear nevus sebaceous syndrome,cardiofaciocutaneous syndrome 2,Malignant tumor of urinary bladder,Noonan syndrome 3,Cerebral arteriovenous malformation unknown Detail
Pathogenic 2014-05-12 criteria provided, single submitter Cardio-facio-cutaneous syndrome,Noonan syndrome germline Detail
Pathogenic 2014-05-12 criteria provided, single submitter Cardio-facio-cutaneous syndrome,Noonan syndrome germline Detail
Pathogenic no assertion criteria provided Noonan syndrome 1 de novo Detail
Pathogenic 2022-09-08 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 cardiofaciocutaneous syndrome 2 NA CLINVAR Detail
0.440 Noonan syndrome 3 NA CLINVAR Detail
0.244 Cardio-facio-cutaneous syndrome We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V... BeFree 16474405 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND Cardiofaciocutaneous syndrome 2 ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND Noonan syndrome 3 ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND RASopathy ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND not specified ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND Noonan syndrome ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND Noonan syndrome 1 ClinVar Detail
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitu... 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
rs104894360 dbSNP
Genome
hg38
Position
chr12:25,209,904-25,209,904
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser