chr17:41226411:G>A Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,226,411-41,226,411
hg38 chr17:43,074,394-43,074,394 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007299.3:c.1300C>T NP_009230.2:p.Gln434Ter
NM_007297.3:c.4471C>T NP_009228.2:p.Gln1491Ter
NM_007300.3:c.4675C>T NP_009231.2:p.Gln1559Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 5
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
COSMIC COSM78884 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 2021/03/19 prostate germline MGS000049
(TMGS000113)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
Pathogenic 2021/03/19 Colorectal germline MGS000050
(TMGS000114)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
Pathogenic 2020/04/20 sigmoid colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-25 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline unknown Detail
Pathogenic 2023-09-28 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2021-12-21 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome 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
0.420 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) AND Hereditary cancer-predisposing syndrome ClinVar 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
rs80356992 dbSNP
Genome
hg19
Position
chr17:41,226,411-41,226,411
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser