chr16:23647358:CT> Detail (hg19) (PALB2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:23,647,358-23,647,359 |
hg38 | chr16:23,636,037-23,636,038 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_024675.3:c.508_509delAG | NP_078951.2:p.Arg170IlefsTer14 |
Ensemble | ENST00000713774.1:c.508_509delAG | ENST00000713774.1:p.Arg170IlefsTer14 |
ENST00000697377.2:c.514_515delAG | ENST00000697377.2:p.Arg172IlefsTer14 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-01-28 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
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Detail |
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2023-03-06 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-07-23 | criteria provided, single submitter | not specified |
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Detail |
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2019-02-05 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 3,Breast cancer, susceptibility to |
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Detail |
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2019-02-05 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 3,Breast cancer, susceptibility to |
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Detail |
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2022-05-26 | criteria provided, single submitter | Breast and/or ovarian cancer |
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Detail |
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2021-05-11 | criteria provided, single submitter |
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Detail | |
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2021-03-04 | no assertion criteria provided | Carcinoma of pancreas |
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Detail |
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2021-08-09 | no assertion criteria provided | breast carcinoma |
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Detail |
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2022-03-16 | criteria provided, single submitter | Fanconi anemia complementation group N,Familial cancer of breast,Pancreatic cancer, susceptibility to, 3 |
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Detail |
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2022-03-16 | criteria provided, single submitter | Fanconi anemia complementation group N,Familial cancer of breast,Pancreatic cancer, susceptibility to, 3 |
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Detail |
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2022-03-16 | criteria provided, single submitter | Fanconi anemia complementation group N,Familial cancer of breast,Pancreatic cancer, susceptibility to, 3 |
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Detail |
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2019-06-05 | criteria provided, single submitter | Fanconi anemia complementation group N |
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Detail |
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2022-08-26 | no assertion criteria provided | hereditary breast ovarian cancer syndrome |
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Detail |
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2023-05-30 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2023-12-20 | criteria provided, multiple submitters, no conflicts | PALB2-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.127 | Breast Cancer, Familial | NA | CLINVAR | Detail | |
0.120 | Pancreatic cancer, susceptibility to, 3 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND Familial cancer of breast | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND not provided | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND not specified | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND multiple conditions | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND multiple conditions | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND Malignant tumor of breast | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND Carcinoma of pancreas | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND Breast carcinoma | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND multiple conditions | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND multiple conditions | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND multiple conditions | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND Fanconi anemia complementation group N | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND Breast-ovarian cancer, familial, susceptibility to,... | ClinVar | Detail |
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) AND PALB2-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs515726123 dbSNP
- Genome
- hg19
- Position
- chr16:23,647,358-23,647,359
- Variant Type
- snv
- Reference Allele
- CT
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121406
- Allele Counts in All Race (ExAC)
- 7
- Heterozygous Counts in All Race (ExAC)
- 7
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.765777638666952E-5
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