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.1074+5G>C

Curation History

CA136073

45343 (ClinVar)

Gene: SOS1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: bffcd141-eb92-4fd7-a50d-07a51fe63f32

Approved on: 2017-04-18

Published on: 2018-12-10

HGVS expressions

NM_005633.3:c.1074+5G>C

NM_005633.3(SOS1):c.1074+5G>C

ENST00000395038.6:c.1074+5G>C

ENST00000402219.6:c.1074+5G>C

ENST00000426016.5:c.1074+5G>C

ENST00000461545.1:n.424+5G>C

NC_000002.12:g.39035207C>G

CM000664.2:g.39035207C>G

NC_000002.11:g.39262348C>G

CM000664.1:g.39262348C>G

NC_000002.10:g.39115852C>G

NG_007530.1:g.90257G>C

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.1074+5G>C variant in the SOS1 gene is 1.551% (837/50942) of European 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

Curation History

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