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_007373.3(SHOC2):c.457C>T (p.Leu153=)

Curation History

CA333154

139104 (ClinVar)

Gene: SHOC2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 8e46fe32-f801-413d-8145-c24fea550548

Approved on: 2017-04-18

Published on: 2018-12-10

HGVS expressions

NM_007373.3:c.457C>T

NM_007373.3(SHOC2):c.457C>T (p.Leu153=)

NC_000010.11:g.110964815C>T

CM000672.2:g.110964815C>T

NC_000010.10:g.112724573C>T

CM000672.1:g.112724573C>T

NC_000010.9:g.112714563C>T

NG_028922.1:g.50273C>T

NM_001269039.1:c.457C>T

NM_001269039.2:c.457C>T

NM_001324336.1:c.457C>T

NM_001324337.1:c.457C>T

NR_136749.1:n.116-20813C>T

ENST00000265277.9:c.457C>T

ENST00000369452.8:c.457C>T

ENST00000489390.1:n.56-35600C>T

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.457C>T (p.Leu153=) variant in the SHOC2 gene is 1.574% (1104/66696) 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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