chr17:41215948:G>A Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,215,948-41,215,948
hg38 chr17:43,063,931-43,063,931 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.5095C>T NP_009225.1:p.Arg1699Trp
NM_007298.3:c.1783C>T NP_009229.2:p.Arg595Trp
NM_007299.3:c.1783C>T NP_009230.2:p.Arg595Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
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 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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000069
(TMGS000141) 		Kenjiro Kosaki
 Keio University
Okayama University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-08 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2015-08-10 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline unknown Detail
Pathogenic 2023-11-15 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2014-06-01 no assertion criteria provided Breast and colorectal cancer germline Detail
Pathogenic 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2015-05-19 no assertion criteria provided Fanconi anemia complementation group A paternal Detail
Pathogenic 2020-01-01 criteria provided, single submitter ovarian cancer germline Detail
Pathogenic 2024-02-12 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic Likely pathogenic 2015-02-01 no assertion criteria provided Fanconi anemia, complementation group S germline inherited Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2023-02-21 no assertion criteria provided endometrial carcinoma 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
0.080 breast carcinoma Measures of genetic risk (report of family history, segregation) were assessed f... BeFree 22889855 Detail
0.360 Malignant neoplasm of breast Measures of genetic risk (report of family history, segregation) were assessed f... BeFree 22889855 Detail
0.129 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Breast and colorectal cancer ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Fanconi anemia complementation group A ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Fanconi anemia, complementation group S ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Malignant tumor of breast ClinVar Detail
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Endometrial carcinoma ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&... DisGeNET Detail
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&... 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
rs55770810 dbSNP
Genome
hg19
Position
chr17:41,215,948-41,215,948
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8594
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1636025133814289E-4
Chromosome Counts in All Race (ExAC)
120306
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4936412149019997E-5
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