Variant: NM_007373.3(SHOC2):c.613A>G (p.Thr205Ala)

CA5689601

448933 (ClinVar)

Gene: SHOC2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

UUID: 795ea8ea-3f7d-49cf-b7e6-d4efa4eb47e5

Approved on: 2017-04-18

Published on: 2018-12-10

HGVS expressions

NM_007373.3:c.613A>G
NM_007373.3(SHOC2):c.613A>G (p.Thr205Ala)
NC_000010.11:g.110964971A>G
CM000672.2:g.110964971A>G
NC_000010.10:g.112724729A>G
CM000672.1:g.112724729A>G
NC_000010.9:g.112714719A>G
NG_028922.1:g.50429A>G
NM_001269039.1:c.613A>G
NM_001269039.2:c.613A>G
NM_001324336.1:c.613A>G
NM_001324337.1:c.613A>G
NR_136749.1:n.116-20657A>G
ENST00000265277.9:c.613A>G
ENST00000369452.8:c.613A>G
ENST00000451838.1:n.121A>G
ENST00000489390.1:n.56-35444A>G

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

• Met criteria codes: BS1

Expert Panel

RASopathy VCEP

Criteria Specification Information

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.613A>G (p.Thr205Ala) variant in the SHOC2 gene is 0.0328% (10/16502) of South Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)

Met criteria codes

• BS1: The filtering allele frequency of the c.613A>G (p.Thr205Ala) variant in the SHOC2 gene is 0.0328% (10/16502) of South Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)