chr17:41256985:T>C Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,256,985-41,256,985
hg38 chr17:43,104,968-43,104,968 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.213-12A>G
NM_007297.3:c.72-12A>G
NM_007299.3:c.213-12A>G
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-06-18 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 maternal germline unknown Detail
Pathogenic 2023-02-21 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-01-10 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-19 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2017-02-10 criteria provided, single submitter not specified germline Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary germline Detail
Pathogenic 2019-06-11 no assertion criteria provided Breast and/or ovarian cancer germline Detail
Pathogenic 2021-09-23 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
Pathogenic 2021-09-23 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
Pathogenic 2021-09-23 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
Pathogenic 2021-09-23 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
0.360 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.213-12A>G AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND not specified ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND Neoplasm of ovary ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND Breast and/or ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.213-12A>G AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs80358163 dbSNP
Genome
hg19
Position
chr17:41,256,985-41,256,985
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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