chr17:43093454:C>A Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,245,471-41,245,471 View the variant detail on this assembly version.
hg38 chr17:43,093,454-43,093,454

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.2077G>T NP_009225.1:p.Asp693Tyr
NM_007299.3:c.787+1290G>T
NM_007300.3:c.2077G>T NP_009231.2:p.Asp693Tyr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
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
Benign 2010-12-17 no assertion criteria provided Breast-ovarian cancer, familial, susceptibility to, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.012 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.360 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.011 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.080 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.002 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.001 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.2077G>T (p.Asp693Tyr) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... 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
rs4986850 dbSNP
Genome
hg38
Position
chr17:43,093,454-43,093,454
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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