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.3322G>A (p.Asp1108Asn)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA1624224

240197 (ClinVar)

Gene: SOS1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 57a75218-590b-421b-8f2f-c7254ed50eaa

Approved on: 2020-06-25

Published on: 2020-06-25

HGVS expressions

NM_005633.3:c.3322G>A

NM_005633.3(SOS1):c.3322G>A (p.Asp1108Asn)

ENST00000395038.6:c.3322G>A

ENST00000402219.6:c.3322G>A

ENST00000426016.5:c.3322G>A

NC_000002.12:g.38995147C>T

CM000664.2:g.38995147C>T

NC_000002.11:g.39222288C>T

CM000664.1:g.39222288C>T

NC_000002.10:g.39075792C>T

NG_007530.1:g.130317G>A

Likely Benign

BP5 BS1

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.3322G>A (p.Asp1108Asn) variant in SOS1 was present in 0.039% (10/13658 with 95% CI) of Latino alleles in gnomAD v3 (BS1). This variant has been identified in a patient with Noonan syndrome who had an alternate molecular basis for disease (BP5; SCV000966758.1; ClinVar ID: 44603). It was also identified in a homozygous state in an individual who also carried a variant in TRMT1 (BP5 not met; Baylor College of Medicine internal data). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BS1, BP5.

BP5

ClinVar ID: 44603

BS1

Present in 0.0058% (2/6118) of “Other” alleles and 0.0039% (4/34572) Latino in gnomAD v2.1.1 Present in 0.039% (10/13658) of Latino alleles in gnomAD v3

Curation History

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