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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Variant: NM_007373.3(SHOC2):c.-1C>T

CA223027

40634 (ClinVar)

Gene: SHOC2
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 7390e608-04b8-42c9-b7d9-27c20be71622

HGVS expressions

NM_007373.3:c.-1C>T
NM_007373.3(SHOC2):c.-1C>T
NM_001269039.1:c.-1C>T
NM_001269039.2:c.-1C>T
NM_001324336.1:c.-1C>T
NM_001324337.1:c.-1C>T
NR_136749.1:n.116-21270C>T
NM_007373.4:c.-1C>T
ENST00000265277.9:c.-1C>T
ENST00000369452.8:c.-1C>T
ENST00000480155.1:n.484C>T
ENST00000489390.1:n.56-36057C>T
ENST00000489783.1:n.378C>T
NC_000010.11:g.110964358C>T
CM000672.2:g.110964358C>T
NC_000010.10:g.112724116C>T
CM000672.1:g.112724116C>T
NC_000010.9:g.112714106C>T
NG_028922.1:g.49816C>T

Uncertain Significance

Not Met criteria codes 4
PS4 PP2 PP3 BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The c.-1C>T variant in SHOC2 has been identified in 2 independent occurrences in patients with clinical features of a RASopathy (PS4 not met; GeneDx, EGL internal data; ClinVar SCV000209050.9, SCV000113449.7). This variant was present in 0.02048% (7/34186) of Latino chromosomes in gnomAD (BS1 not met; gnomad.broadinstitute.org). In summary, the clinical significance of the c.-1C>T variant in SHOC2 is uncertain. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): NONE.
Not Met criteria codes
PS4
The c.-1C>T variant in SHOC2 has been identified in 2 independent occurrences in patients with clinical features of a RASopathy (PS4 not met; GeneDx, EGL internal data; ClinVar SCV000209050.9, SCV000113449.7).
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
1 fish in UCSC database has C>T at this site. Alamut indicates this site is highly conserved (it does not predict an impact to splicing).
BS1
Present in 0.02048% (7/34186) of Latino chromosomes in gnomAD (BS1 not met; gnomad.broadinstitute.org).
Approved on: 2020-07-02
Published on: 2020-07-02
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