ClinVar Genomic variation as it relates to human health
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
Germline
Classification
(6)
Conflicting classifications of pathogenicity
Likely risk allele(1); Uncertain significance(2); Likely benign(3)
Likely risk allele(1); Uncertain significance(2); Likely benign(3)
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 | |||
TGFBR2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1153 | 1180 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (3) |
|
Sep 19, 2023 | RCV000234528.14 | |
Likely benign (1) |
|
May 24, 2021 | RCV001526891.2 | |
Uncertain significance (1) |
|
Jun 22, 2022 | RCV002259326.2 | |
Likely risk allele (1) |
|
- | RCV004020797.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs565502802 ...
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 08, 2024