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NM_004397.6(DDX6):c.37G>T (p.Gly13Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 6, 2023
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:
RCV003318995.3

Allele description [Variation Report for NM_004397.6(DDX6):c.37G>T (p.Gly13Cys)]

NM_004397.6(DDX6):c.37G>T (p.Gly13Cys)

Gene:
DDX6:DEAD-box helicase 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_004397.6(DDX6):c.37G>T (p.Gly13Cys)
HGVS:
  • NC_000011.10:g.118786215C>A
  • NM_001257191.3:c.37G>T
  • NM_004397.6:c.37G>TMANE SELECT
  • NP_001244120.1:p.Gly13Cys
  • NP_004388.2:p.Gly13Cys
  • NC_000011.9:g.118656924C>A
  • NM_004397.5:c.37G>T
Protein change:
G13C
Molecular consequence:
  • NM_001257191.3:c.37G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004397.6:c.37G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004022932GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 6, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV004022932.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 14, 2023