chr17:43070923:C>A Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,222,940-41,222,940 View the variant detail on this assembly version.
hg38 chr17:43,070,923-43,070,923

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.4986+5G>T
NM_007299.3:c.1674+5G>T
NM_007300.3:c.5049+5G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
not provided no assertion provided Familial cancer of breast germline Detail
not provided no assertion provided Breast-ovarian cancer, familial, susceptibility to, 1 not applicable Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Breast-ovarian cancer, familial, susceptibility to, 1 NA CLINVAR Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.4986+5G>T AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.4986+5G>T AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar 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
rs397509211 dbSNP
Genome
hg38
Position
chr17:43,070,923-43,070,923
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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