Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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  • See Evidence submitted by expert panel for details.

Variant: NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala)

CA297169

181526 (ClinVar)

Gene: SHOC2
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: f83b1020-86c7-4755-94be-9a1eabb874c4
Approved on: 2017-04-18
Published on: 2018-12-10

HGVS expressions

NM_007373.3:c.38A>C
NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala)
NC_000010.11:g.110964396A>C
CM000672.2:g.110964396A>C
NC_000010.10:g.112724154A>C
CM000672.1:g.112724154A>C
NC_000010.9:g.112714144A>C
NG_028922.1:g.49854A>C
NM_001269039.1:c.38A>C
NM_001269039.2:c.38A>C
NM_001324336.1:c.38A>C
NM_001324337.1:c.38A>C
NR_136749.1:n.116-21232A>C
ENST00000265277.9:c.38A>C
ENST00000369452.8:c.38A>C
ENST00000480155.1:n.522A>C
ENST00000489390.1:n.56-36019A>C
ENST00000489783.1:n.416A>C

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"
Met criteria codes 1
BS1
Not Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The filtering allele frequency of the c.38A>C (p.Glu13Ala) variant in the SHOC2 gene is 0.0484% (10/11206) of Latino 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.38A>C (p.Glu13Ala) variant in the SHOC2 gene is 0.0484% (10/11206) of Latino 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)
Not Met criteria codes
BA1
The filtering allele frequency of the c.38A>C (p.Glu13Ala) variant in the SHOC2 gene is 0.0484% (10/11206) of Latino 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)
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