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_007373.3(SHOC2):c.1594A>G (p.Ser532Gly)

CA293486

139110 (ClinVar)

Gene: SHOC2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 1bcfceba-23f2-4e97-8281-791f9602856c

Approved on: 2017-04-18

Published on: 2018-12-10

HGVS expressions

NM_007373.3:c.1594A>G

NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly)

NM_001269039.1:c.1456A>G

NM_001269039.2:c.1456A>G

NM_001324336.1:c.1594A>G

NM_001324337.1:c.1594A>G

NR_136749.1:n.1006A>G

ENST00000265277.9:c.1456A>G

ENST00000369452.8:c.1594A>G

ENST00000451838.1:n.964A>G

ENST00000489390.1:n.808A>G

NC_000010.11:g.111011663A>G

CM000672.2:g.111011663A>G

NC_000010.10:g.112771421A>G

CM000672.1:g.112771421A>G

NC_000010.9:g.112761411A>G

NG_028922.1:g.97121A>G

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.1594A>G (p.Ser532Gly) variant in the SHOC2 gene is 1.147% (138/10402) of African 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

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