chr17:43091924:G>A Detail (hg38) (BRCA1, LOC126862571)

Information

Genome

Assembly Position
hg19 chr17:41,243,941-41,243,941 View the variant detail on this assembly version.
hg38 chr17:43,091,924-43,091,924

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.3607C>T NP_009225.1:p.Arg1203Ter
NM_007299.3:c.788-892C>T
NM_007300.3:c.3607C>T NP_009231.2:p.Arg1203Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 4
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 113705 OMIM
HGNC 1100 HGNC
Ensembl ENSG00000012048 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57842746 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000069
(TMGS000141)
Kenjiro Kosaki
Keio University
Okayama University
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000069
(TMGS000141)
Kenjiro Kosaki
Keio University
Okayama University
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000069
(TMGS000141)
Kenjiro Kosaki
Keio University
Okayama University
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000001
(TMGS000154)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-04-22 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline maternal unknown Detail
Pathogenic 2023-12-01 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2023-04-24 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2014-06-01 no assertion criteria provided Breast neoplasm germline Detail
Pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-10-13 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline maternal unknown Detail
Pathogenic 2017-02-16 criteria provided, single submitter ovarian cancer germline Detail
Pathogenic 2016-03-13 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2021-09-11 no assertion criteria provided germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic no assertion criteria provided Malignant tumor of urinary bladder somatic Detail
Pathogenic 2023-05-16 criteria provided, single submitter BRCA1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Breast-ovarian cancer, familial, susceptibility to, 1 NA CLINVAR Detail
0.196 Breast Cancer, Familial NA CLINVAR Detail
0.126 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Breast neoplasm ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Breast and/or ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Neoplasm of ovary ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Ovarian carcinoma ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Gastric cancer ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Malignant tumor of urinary bladder ClinVar Detail
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND BRCA1-related disorder ClinVar Detail
NA DisGeNET 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs62625308 dbSNP
Genome
hg38
Position
chr17:43,091,924-43,091,924
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser