chr17:41243451:C>T Detail (hg19) (BRCA1, LOC126862571)

Information

Genome

Assembly Position
hg19 chr17:41,243,451-41,243,451
hg38 chr17:43,091,434-43,091,434 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007297.3:c.3955+1G>A
NM_007299.3:c.788-402G>A
NM_007298.3:c.788-402G>A
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Ovarian cancer germline MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
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 2023-10-11 criteria provided, conflicting interpretations not provided germline unknown Detail
Likely pathogenic 2023-09-08 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2024-01-24 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Uncertain significance 2024-02-09 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline Detail
Pathogenic 2014-04-23 no assertion criteria provided Breast and/or ovarian cancer germline Detail
Uncertain significance 2021-05-30 criteria provided, single submitter not specified germline Detail
Pathogenic no assertion criteria provided unknown Detail
Uncertain significance 2021-08-08 no assertion criteria provided breast carcinoma 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
0.196 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.4096+1G>A AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.4096+1G>A AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.4096+1G>A AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4096+1G>A AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4096+1G>A AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.4096+1G>A AND Breast and/or ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.4096+1G>A AND not specified ClinVar Detail
NM_007294.4(BRCA1):c.4096+1G>A AND Malignant tumor of breast ClinVar Detail
NM_007294.4(BRCA1):c.4096+1G>A AND Breast carcinoma 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
rs80358178 dbSNP
Genome
hg19
Position
chr17:41,243,451-41,243,451
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121216
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.474920802534319E-5
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