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NM_005633.4(SOS1):c.1635G>A (p.Gln545=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 20, 2019
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:
RCV002402513.2

Allele description [Variation Report for NM_005633.4(SOS1):c.1635G>A (p.Gln545=)]

NM_005633.4(SOS1):c.1635G>A (p.Gln545=)

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.1635G>A (p.Gln545=)
HGVS:
  • NC_000002.12:g.39022793C>T
  • NG_007530.1:g.102671G>A
  • NM_001382394.1:c.1614G>A
  • NM_001382395.1:c.1635G>A
  • NM_005633.4:c.1635G>AMANE SELECT
  • NP_001369323.1:p.Gln538=
  • NP_001369324.1:p.Gln545=
  • NP_005624.2:p.Gln545=
  • NP_005624.2:p.Gln545=
  • LRG_754t1:c.1635G>A
  • LRG_754:g.102671G>A
  • LRG_754p1:p.Gln545=
  • NC_000002.11:g.39249934C>T
  • NM_005633.3:c.1635G>A
Links:
dbSNP: rs1240207005
NCBI 1000 Genomes Browser:
rs1240207005
Molecular consequence:
  • NM_001382394.1:c.1614G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001382395.1:c.1635G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005633.4:c.1635G>A - 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
SCV002707636Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 20, 2019) 		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, SCV002707636.2

#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: May 1, 2024