chr17:41215920:G>T Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,215,920-41,215,920
hg38 chr17:43,063,903-43,063,903 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007300.3:c.5186C>A NP_009231.2:p.Ala1729Glu
NM_007297.3:c.4982C>A NP_009228.2:p.Ala1661Glu
NM_007298.3:c.1811C>A NP_009229.2:p.Ala604Glu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 COSM6955977 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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-11-22 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2015-08-10 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline not applicable unknown Detail
Pathogenic 2023-05-02 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline unknown Detail
Pathogenic criteria provided, single submitter Breast neoplasm germline Detail
Pathogenic 2017-02-23 criteria provided, single submitter Familial cancer of breast germline Detail
Pathogenic 2021-08-21 no assertion criteria provided breast carcinoma germline Detail
Pathogenic 2022-05-02 criteria provided, single submitter Breast and/or ovarian cancer 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
0.360 Malignant neoplasm of breast A systematic genetic assessment of 1,433 sequence variants of unknown clinical s... UNIPROT 17924331 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Breast neoplasm ClinVar Detail
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Breast carcinoma ClinVar Detail
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Breast and/or ovarian cancer ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the B... 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
rs28897696 dbSNP
Genome
hg19
Position
chr17:41,215,920-41,215,920
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8614
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)
120626
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)
2.4870260142921094E-5
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