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NM_005633.4(SOS1):c.1554A>G (p.Leu518=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 29, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003338848.2

Allele description [Variation Report for NM_005633.4(SOS1):c.1554A>G (p.Leu518=)]

NM_005633.4(SOS1):c.1554A>G (p.Leu518=)

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.1554A>G (p.Leu518=)
HGVS:
  • NC_000002.12:g.39022874T>C
  • NG_007530.1:g.102590A>G
  • NM_001382394.1:c.1533A>G
  • NM_001382395.1:c.1554A>G
  • NM_005633.4:c.1554A>GMANE SELECT
  • NP_001369323.1:p.Leu511=
  • NP_001369324.1:p.Leu518=
  • NP_005624.2:p.Leu518=
  • NP_005624.2:p.Leu518=
  • LRG_754t1:c.1554A>G
  • LRG_754:g.102590A>G
  • LRG_754p1:p.Leu518=
  • NC_000002.11:g.39250015T>C
  • NC_000002.11:g.39250015T>C
  • NM_005633.3:c.1554A>G
Links:
dbSNP: rs765369803
NCBI 1000 Genomes Browser:
rs765369803
Molecular consequence:
  • NM_001382394.1:c.1533A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001382395.1:c.1554A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005633.4:c.1554A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004057913Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 29, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004057913.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024