Variant #0000628142 (NC_000017.10:g.41267809G>C, BRCA1(NM_007294.3):c.81-13C>G)

Individual ID 00273041
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41267809G>C
DNA change (hg38) g.43115792G>C
Published as -
ISCN -
DB-ID BRCA1_000020 See all 13 reported entries
Variant remarks classified as class 3, 4 or 5 in 1/25800 full screen tests: PHE release 2 BRCA germline variants (June 19, 2019). Entry from British diagnostic laboratories uploaded via Public Health England. Where benign/likely benign variants were excluded. Currently variants are classified as either "3, 4 or 5" or "1, 2, 3, 4 or 5".
Reference UK Variant Sharing Initiative
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency 1 case
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
Owner UK Variant Sharing Initiative
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 ?/. - c.81-13C>G r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000274195 DNA SEQ - - - 1 UK Variant Sharing Initiative