NM_006939.4(SOS2):c.2010A>G (p.Ala670=) AND not specified

Clinical significance:Benign (Last evaluated: Nov 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001193655.1

Allele description [Variation Report for NM_006939.4(SOS2):c.2010A>G (p.Ala670=)]

NM_006939.4(SOS2):c.2010A>G (p.Ala670=)

Gene:
SOS2:SOS Ras/Rho guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q21.3
Genomic location:
Preferred name:
NM_006939.4(SOS2):c.2010A>G (p.Ala670=)
HGVS:
  • NC_000014.9:g.50157046T>C
  • NG_051073.1:g.79648A>G
  • NM_006939.4:c.2010A>GMANE SELECT
  • NP_008870.2:p.Ala670=
  • NC_000014.8:g.50623764T>C
  • NM_006939.3:c.2010A>G
Molecular consequence:
  • NM_006939.4:c.2010A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001362634Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Nov 2, 2019)
germlineclinical testing

Citation Link

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, SCV001362634.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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