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.*4C>T

CA181051

177950 (ClinVar)

Gene: SOS1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 35465003-8a5c-4ed0-8a54-1f380f7cad30

Approved on: 2019-11-04

Published on: 2019-11-04

HGVS expressions

NM_005633.3:c.*4C>T

NM_005633.3(SOS1):c.*4C>T

NC_000002.12:g.38985820G>A

CM000664.2:g.38985820G>A

NC_000002.11:g.39212961G>A

CM000664.1:g.39212961G>A

NC_000002.10:g.39066465G>A

NG_007530.1:g.139644C>T

ENST00000395038.6:c.*4C>T

ENST00000402219.6:c.*4C>T

ENST00000426016.5:c.*4C>T

Benign

BP7 BP4 BA1

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.*4C>T variant in SOS1 is classified as benign because it has been identified in 0.05383% (95% CI of 27/35402) of Latino alleles in gnomAD (BA1; https://gnomad.broadinstitute.org). It does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing (BP4, BP7). ACMG/AMP Criteria applied: BA1, BP4, BP7.

BP7

Intronic variant outside splice consensus sequence, and Alamut predicts no impact on splicing.

BP4

Splicing is not predicted to be impacted in Alamut. REVEL score not provided.

BA1

Present in 0.05383% (95% CI of 27/35402) of Latino alleles in gnomAD

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