The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!


Variant: NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)

CA7176713

445735 (ClinVar)

Gene: SOS2
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 37ca3170-6c30-4ded-a943-695ee2052510
Approved on: 2024-09-17
Published on: 2024-10-01

HGVS expressions

NM_006939.4:c.3755_3757del
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)
NC_000014.9:g.50118587_50118589del
CM000676.2:g.50118587_50118589del
NC_000014.8:g.50585305_50585307del
CM000676.1:g.50585305_50585307del
NC_000014.7:g.49655055_49655057del
NG_051073.1:g.118106_118108del
ENST00000216373.10:c.3755_3757del
ENST00000216373.9:c.3755_3757del
ENST00000543680.5:c.3656_3658del
NM_006939.2:c.3755_3757del
NM_006939.3:c.3755_3757del
More

Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.1.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The c.3755_3757del (p.Ile1252del) variant in SOS2 is predicted to cause a change in the length of the protein due to an in-frame deletion of 1 amino acid in a non-repeat region. The highest population filtering allele frequency in gnomAD v2.1.1 is 0.00217 in the African/African American population, which is higher than the ClinGen RASopathy VCEP threshold (>0.0005) for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as benign for autosomal dominant RASopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen RASopathy VCEP: BA1. (RASopathy VCEP specifications version 2.1; 9/17/2024)
Met criteria codes
BA1
The c.3755_3757del (p.Ile1252del) variant in SOS2 is predicted to cause a change in the length of the protein due to an in-frame deletion of 1 amino acid in a non-repeat region. The highest population filtering allele frequency in gnomAD v2.1.1 is 0.00217 in the African/African American population, which is higher than the ClinGen RASopathy VCEP threshold (>0.0005) for BA1, and therefore meets this criterion (BA1).
Curation History
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