chr17:41256153:C>T Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,256,153-41,256,153
hg38 chr17:43,104,136-43,104,136 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.427G>A NP_009225.1:p.Glu143Lys
NM_007297.3:c.286G>A NP_009228.2:p.Glu96Lys
NM_007300.3:c.427G>A NP_009231.2:p.Glu143Lys
Summary

MGeND

Clinical significance Benign Uncertain significance
Variant entry 5
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 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
COSMIC COSM5009494 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Uncertain significance 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Uncertain significance 2021/03/19 prostate germline MGS000049
(TMGS000113) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Benign 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-08-10 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 unknown germline Detail
Conflicting interpretations of pathogenicity 2023-08-15 criteria provided, conflicting interpretations not specified germline Detail
Benign Likely benign 2015-08-20 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2024-01-29 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Likely benign 2021-02-09 criteria provided, single submitter not provided germline Detail
Likely benign 2022-07-20 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Uncertain significance no assertion criteria provided Familial cancer of breast germline Detail
Likely benign 2022-03-10 criteria provided, single submitter Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1 unknown Detail
Likely benign 2022-03-10 criteria provided, single submitter Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1 unknown Detail
Likely benign 2022-03-10 criteria provided, single submitter Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1 unknown Detail
Likely benign 2022-03-10 criteria provided, single submitter Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1 unknown 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.427G>A (p.Glu143Lys) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND not specified ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND Breast and/or ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) AND multiple conditions 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
rs80356991 dbSNP
Genome
hg19
Position
chr17:41,256,153-41,256,153
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
5
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.780346820809249E-4
Chromosome Counts in All Race (ExAC)
121390
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.885493038965319E-5
Genome browser