ClinVar Genomic variation as it relates to human health
NM_001256447.2(BCAP31):c.212G>A (p.Arg71Gln)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
BCAP31 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
167 | 417 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 10, 2022 | RCV003737144.1 | |
Likely benign (1) |
|
Nov 3, 2022 | RCV004374157.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024