Variant #0000403554 (NC_000017.10:g.41276070A>G, BRCA1(NM_007294.3):c.44T>C)

Individual ID 00179190
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41276070A>G
DNA change (hg38) g.43124053A>G
Published as -
ISCN -
DB-ID BRCA1_000009 See all 4 reported entries
Variant remarks not in 11241 controls
Reference PubMed: Momozawa 2018, Journal: Momozawa 2018
ClinVar ID -
dbSNP ID rs80357316
Origin Germline
Segregation -
Frequency 1/7051 cases breast cancer
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yukihide Momozawa
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 ?/. 2 c.44T>C r.(?) p.(Ile15Thr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180093 DNA SEQ - - BRCA1 1 Yukihide Momozawa