NM_006939.4(SOS2):c.3379+1G>C AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000681358.1

Allele description [Variation Report for NM_006939.4(SOS2):c.3379+1G>C]

NM_006939.4(SOS2):c.3379+1G>C

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.3379+1G>C
HGVS:
  • NC_000014.9:g.50129960C>G
  • NG_051073.1:g.106734G>C
  • NM_006939.4:c.3379+1G>CMANE SELECT
  • NC_000014.8:g.50596678C>G
  • NM_006939.2:c.3379+1G>C
Links:
dbSNP: rs1566818889
NCBI 1000 Genomes Browser:
rs1566818889
Molecular consequence:
  • NM_006939.4:c.3379+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000808821GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 2, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000808821.1

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

Description

The c.3379+1G>C variant in the SOS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 21, which is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.3379+1G>C in this individual is unknown. This variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3379+1G>C as a variant of uncertain significance.

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

Last Updated: Feb 27, 2021

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