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]

Variant: NM_005633.3(SOS1):c.3330G>C (p.Ser1110=)

Curation History

CA1624221

448940 (ClinVar)

Gene: SOS1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: ffbc3b95-48ea-412c-a45b-92033d327cb7

Approved on: 2017-04-18

Published on: 2018-12-10

HGVS expressions

NM_005633.3:c.3330G>C

NM_005633.3(SOS1):c.3330G>C (p.Ser1110=)

ENST00000395038.6:c.3330G>C

ENST00000402219.6:c.3330G>C

ENST00000426016.5:c.3330G>C

NC_000002.12:g.38995139C>G

CM000664.2:g.38995139C>G

NC_000002.11:g.39222280C>G

CM000664.1:g.39222280C>G

NC_000002.10:g.39075784C>G

NG_007530.1:g.130325G>C

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

BS1

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.3330G>C (p.Ser1110=) variant in the SOS1 gene is 0.0382% (8/10406) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)

BS1

Curation History

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