ClinVar Genomic variation as it relates to human health
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
Germline
Classification
(8)
Conflicting classifications of pathogenicity
Uncertain significance(5); Benign(1); Likely benign(2)
Uncertain significance(5); Benign(1); Likely benign(2)
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 | |||
FLNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3067 | 3496 | |
LOC107988032 | - | - | - | GRCh38 | - | 275 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 7, 2019 | RCV000435841.11 | |
Benign (1) |
|
Dec 25, 2023 | RCV000559847.6 | |
Uncertain significance (1) |
|
Dec 28, 2017 | RCV000760220.2 | |
Conflicting interpretations of pathogenicity (4) |
|
Nov 18, 2020 | RCV000762685.28 | |
Likely benign (1) |
|
Aug 7, 2023 | RCV002393056.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024