chr17:43091432:T>C Detail (hg38) (BRCA1, LOC126862571)

Information

Genome

Assembly Position
hg19 chr17:41,243,449-41,243,449 View the variant detail on this assembly version.
hg38 chr17:43,091,432-43,091,432

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.4096+3A>G
NM_007299.3:c.788-400A>G
NM_007300.3:c.4096+3A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-04-12 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline unknown Detail
Conflicting interpretations of pathogenicity 2022-09-20 criteria provided, conflicting interpretations hereditary breast ovarian cancer syndrome germline Detail
Uncertain significance 2023-12-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-02-21 criteria provided, single submitter not provided germline unknown Detail
Pathogenic 2013-04-13 no assertion criteria provided Breast and/or ovarian cancer germline Detail
Uncertain significance 2018-10-31 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
Uncertain significance 2018-10-31 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
Uncertain significance 2018-10-31 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
Uncertain significance 2018-10-31 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
Uncertain significance 2024-02-06 criteria provided, multiple submitters, no conflicts not specified 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
0.126 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.4096+3A>G AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.4096+3A>G AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4096+3A>G AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4096+3A>G AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.4096+3A>G AND Breast and/or ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.4096+3A>G AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4096+3A>G AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4096+3A>G AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4096+3A>G AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4096+3A>G AND not specified ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs80358015 dbSNP
Genome
hg38
Position
chr17:43,091,432-43,091,432
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser