chr17:43071077:T>C Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,223,094-41,223,094 View the variant detail on this assembly version.
hg38 chr17:43,071,077-43,071,077

HGVS

Type Transcript Protein
RefSeq NM_007299.3:c.1525A>G NP_009230.2:p.Ser509Gly
NM_007300.3:c.4900A>G NP_009231.2:p.Ser1634Gly
NM_007294.3:c.4837A>G NP_009225.1:p.Ser1613Gly
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.331
ToMMo:0.328
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.381

Prediction

ClinVar

Clinical Significance Benign
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 tgv57841033 TogoVar
COSMIC COSM3755560 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-11-29 criteria provided, single submitter not provided unknown germline Detail
Benign 2020-05-03 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Benign 2015-08-10 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline not provided somatic unknown Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Benign 2017-11-01 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2022-01-02 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2019-04-03 criteria provided, single submitter breast carcinoma germline Detail
Benign no assertion criteria provided germline Detail
Benign 2022-05-06 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 unknown Detail
Benign 2022-05-06 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 unknown Detail
Benign 2022-05-06 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 unknown Detail
Benign 2022-05-06 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.042 breast carcinoma We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.005 Non-small cell lung carcinoma We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.012 Non-small cell lung carcinoma We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.002 Xeroderma Pigmentosum, Complementation Group D We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.098 Malignant neoplasm of breast We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.080 breast carcinoma We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.018 Malignant neoplasm of breast We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.005 Non-small cell lung carcinoma We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.084 Malignant neoplasm of breast We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.018 breast carcinoma We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.011 breast carcinoma We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.360 Malignant neoplasm of breast We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.097 Malignant neoplasm of breast We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.085 Malignant neoplasm of breast We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.008 breast carcinoma We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.006 breast carcinoma We aimed to determine the associations of genetic polymorphisms of excision repa... BeFree 24933103 Detail
0.009 Non-small cell lung carcinoma Survival analyses indicated that BRCA1 rs1799966 TC+CC genotypes were associated... BeFree 24933103 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND not specified ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND Breast carcinoma ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND Malignant tumor of breast ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) AND multiple conditions ClinVar Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... DisGeNET Detail
Survival analyses indicated that BRCA1 rs1799966 TC+CC genotypes were associated with a decreased ri... 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
rs1799966 dbSNP
Genome
hg38
Position
chr17:43,071,077-43,071,077
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
240.46
Standard deviation of sample read depth (HGVD)
107.00
Number of reference allele (HGVD)
1620
Number of alternative allele (HGVD)
800
Allele Frequency (HGVD)
0.3305785123966942
Gene Symbol (HGVD)
BRCA1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1799966
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.328
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5498
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8612
East Asian Allele Counts (ExAC)
3277
East Asian Heterozygous Counts (ExAC)
1993
East Asian Homozygous Counts (ExAC)
642
East Asian Allele Frequency (ExAC)
0.3805155596841616
Chromosome Counts in All Race (ExAC)
121360
Allele Counts in All Race (ExAC)
42424
Heterozygous Counts in All Race (ExAC)
26717
Homozygous Counts in All Race (ExAC)
7852
Allele Frequency in All Race (ExAC)
0.34957152274225445
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