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NM_005633.4(SOS1):c.48G>A (p.Ala16=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 27, 2024
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:
RCV004992666.1

Allele description [Variation Report for NM_005633.4(SOS1):c.48G>A (p.Ala16=)]

NM_005633.4(SOS1):c.48G>A (p.Ala16=)

Genes:
LOC129933535:ATAC-STARR-seq lymphoblastoid silent region 11384 [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.48G>A (p.Ala16=)
HGVS:
  • NC_000002.12:g.39120375C>T
  • NG_007530.1:g.5089G>A
  • NG_166561.1:g.275C>T
  • NM_001382394.1:c.66+4289G>A
  • NM_001382395.1:c.48G>A
  • NM_005633.4:c.48G>AMANE SELECT
  • NP_001369324.1:p.Ala16=
  • NP_005624.2:p.Ala16=
  • NP_005624.2:p.Ala16=
  • LRG_754t1:c.48G>A
  • LRG_754:g.5089G>A
  • LRG_754p1:p.Ala16=
  • NC_000002.11:g.39347516C>T
  • NM_005633.3:c.48G>A
Molecular consequence:
  • NM_001382394.1:c.66+4289G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382395.1:c.48G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005633.4:c.48G>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
SCV005506141Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 27, 2024) 		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, SCV005506141.1

#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: Mar 11, 2025