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.2122G>A (p.Ala708Thr)

CA136094

40697 (ClinVar)

Gene: SOS1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 0fc9c039-08e1-4b28-8161-1cb12bd63b04

Approved on: 2017-04-03

Published on: 2018-12-10

HGVS expressions

NM_005633.3:c.2122G>A

NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr)

ENST00000395038.6:c.2122G>A

ENST00000402219.6:c.2122G>A

ENST00000426016.5:c.2122G>A

NC_000002.12:g.39013505C>T

CM000664.2:g.39013505C>T

NC_000002.11:g.39240646C>T

CM000664.1:g.39240646C>T

NC_000002.10:g.39094150C>T

NG_007530.1:g.111959G>A

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.2122G>A (p.Ala708Thr) variant in the SOS1 gene is 5.13% for Latino chromosomes by the Exome Aggregation Consortium (633/11554 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).

BA1

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