ClinVar Genomic variation as it relates to human health
NM_000828.4(GRIA3):c.-2G=
Germline
Classification
(5)
Benign
criteria provided, multiple submitters, no conflicts
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 | |||
GRIA3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
485 | 656 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Aug 14, 2012 | RCV000153339.13 | |
Benign (2) |
|
Nov 19, 2019 | RCV000711850.12 | |
Benign (1) |
|
Aug 10, 2021 | RCV001701690.10 | |
Benign (1) |
|
Nov 24, 2014 | RCV002312678.9 |
Citations for germline classification of this variant
HelpText-mined citations for rs58044961 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated May 19, 2024
The G in position 5292 of NG_009377.2 is in a single base gap when aligned to NC_000023.10 in GRCh37 assembly. Thus what is asserted as an assertion relative to GRCh37 is no change on GRCh38 (NC_000023.11) and on the RefSeqGene.