ClinVar Genomic variation as it relates to human health
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Likely benign
for
RASopathy
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 | |||
PTPN11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
957 | 969 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (3) |
|
Jan 9, 2022 | RCV000037646.14 | |
Likely benign (2) |
|
Sep 22, 2023 | RCV000680297.4 | |
Likely benign (1) |
|
Apr 14, 2021 | RCV000621552.3 | |
Likely benign (2) |
|
Aug 19, 2019 | RCV000654924.10 | |
Conflicting interpretations of pathogenicity (2) |
|
Mar 8, 2017 | RCV000678902.5 | |
Uncertain significance (1) |
|
Dec 12, 2016 | RCV001813328.3 | |
Likely benign (1) |
|
Sep 14, 2021 | RCV002496598.1 | |
PTPN11-related disorder
|
Likely benign (1) |
|
Jan 25, 2022 | RCV004534799.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs397516805 ...
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 Jun 30, 2024