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

  • See Evidence submitted by expert panel for details.

Variant: NM_005633.3(SOS1):c.2167+6T>G

CA136097

45350 (ClinVar)

Gene: SOS1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 5b21bf7e-ed81-44bc-8bb2-e27420a0d015
Approved on: 2017-04-18
Published on: 2018-12-10

HGVS expressions

NM_005633.3:c.2167+6T>G
NM_005633.3(SOS1):c.2167+6T>G
ENST00000395038.6:c.2167+6T>G
ENST00000402219.6:c.2167+6T>G
ENST00000426016.5:c.2167+6T>G
NC_000002.12:g.39013454A>C
CM000664.2:g.39013454A>C
NC_000002.11:g.39240595A>C
CM000664.1:g.39240595A>C
NC_000002.10:g.39094099A>C
NG_007530.1:g.112010T>G
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Benign

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.2167+6T>G variant in the SOS1 gene is 1.442% (169/10278) of African 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)
Met criteria codes
BA1
The filtering allele frequency of the c.2167+6T>G variant in the SOS1 gene is 1.442% (169/10278) of African 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)
Curation History
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