Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser)

CA1624554

448943 (ClinVar)

Gene: SOS1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 43130945-2556-414b-8804-afafb2608a11

Approved on: 2017-04-18

Published on: 2018-12-10

HGVS expressions

NM_005633.3:c.1772A>G

NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser)

ENST00000395038.6:c.1772A>G

ENST00000402219.6:c.1772A>G

ENST00000426016.5:c.1772A>G

NC_000002.12:g.39022656T>C

CM000664.2:g.39022656T>C

NC_000002.11:g.39249797T>C

CM000664.1:g.39249797T>C

NC_000002.10:g.39103301T>C

NG_007530.1:g.102808A>G

Benign

BA1

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.1772A>G (p.Asn591Ser) variant in the SOS1 gene is 0.054% (11/11524) of Latino chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)

BA1

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