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NM_005633.4(SOS1):c.294G>A (p.Lys98=) AND RASopathy

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 18, 2017
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000521972.2

Allele description [Variation Report for NM_005633.4(SOS1):c.294G>A (p.Lys98=)]

NM_005633.4(SOS1):c.294G>A (p.Lys98=)

Gene:
SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.1
Genomic location:
Preferred name:
NM_005633.4(SOS1):c.294G>A (p.Lys98=)
Other names:
NM_005633.3(SOS1):c.294G>A
HGVS:
  • NC_000002.12:g.39058724C>T
  • NG_007530.1:g.66740G>A
  • NM_001382394.1:c.273G>A
  • NM_001382395.1:c.294G>A
  • NM_005633.4:c.294G>AMANE SELECT
  • NP_001369323.1:p.Lys91=
  • NP_001369324.1:p.Lys98=
  • NP_005624.2:p.Lys98=
  • NP_005624.2:p.Lys98=
  • LRG_754t1:c.294G>A
  • LRG_754:g.66740G>A
  • LRG_754p1:p.Lys98=
  • NC_000002.11:g.39285865C>T
  • NM_005633.3:c.294G>A
  • p.Lys98Lys
Links:
dbSNP: rs748478952
NCBI 1000 Genomes Browser:
rs748478952
Molecular consequence:
  • NM_001382394.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001382395.1:c.294G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005633.4:c.294G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
RASopathy
Synonyms:
rasopathies; Noonan spectrum disorder
Identifiers:
MONDO: MONDO:0021060; MedGen: C5555857

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000616525ClinGen RASopathy Variant Curation Expert Panel
reviewed by expert panel

(ClinGen RASopathy ACMG Specifications v1)		Likely benign
(Apr 18, 2017) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen RASopathy Variant Curation Expert Panel, SCV000616525.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The filtering allele frequency of the c.294G>A (p.Lys98=) variant in the SOS1 gene is 0.0284% (9/16504) 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)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022