chr17:41244826:C>A Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,244,826-41,244,826
hg38 chr17:43,092,809-43,092,809 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.2722G>T NP_009225.1:p.Glu908Ter
NM_007298.3:c.788-1777G>T
NM_007300.3:c.2722G>T NP_009231.2:p.Glu908Ter
Summary

MGeND

Clinical significance Pathogenic Uncertain significance
Variant entry 2
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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance breast-ovarian cancer, familial, susceptibility to germline MGS000067
(TMGS000139) 		Kenjiro Kosaki Keio University
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 2024-01-04 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2022-07-13 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline unknown Detail
Pathogenic 2023-02-08 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2014-06-01 no assertion criteria provided Breast neoplasm germline Detail
Pathogenic 2001-10-01 no assertion criteria provided Breast and/or ovarian cancer germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast 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.2722G>T (p.Glu908Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND Breast neoplasm ClinVar Detail
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND Breast and/or ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) 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
rs80356978 dbSNP
Genome
hg19
Position
chr17:41,244,826-41,244,826
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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