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NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2016
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:
RCV000588458.1

Allele description [Variation Report for NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln)]

NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln)

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.2945G>A (p.Arg982Gln)
HGVS:
  • NC_000002.12:g.38997272C>T
  • NG_007530.1:g.128192G>A
  • NM_001382394.1:c.2924G>A
  • NM_001382395.1:c.2945G>A
  • NM_005633.4:c.2945G>AMANE SELECT
  • NP_001369323.1:p.Arg975Gln
  • NP_001369324.1:p.Arg982Gln
  • NP_005624.2:p.Arg982Gln
  • NP_005624.2:p.Arg982Gln
  • LRG_754t1:c.2945G>A
  • LRG_754:g.128192G>A
  • LRG_754p1:p.Arg982Gln
  • NC_000002.11:g.39224413C>T
  • NM_005633.3:c.2945G>A
Protein change:
R975Q
Links:
dbSNP: rs1553351453
NCBI 1000 Genomes Browser:
rs1553351453
Molecular consequence:
  • NM_001382394.1:c.2924G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382395.1:c.2945G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005633.4:c.2945G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000698627Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 12, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698627.1

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

Description

Variant summary: The SOS1 c.2945G>A variant affects a non-conserved nucleotide, resulting in an amino acid change from Arg to Gln. 4/5 in-silico tools predict this variant to be benign. This variant was not found in approximately 121264 control chromosomes from the large and broad populations of ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant has currently been classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Feb 25, 2025