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NM_025132.4(WDR19):c.742G>A (p.Gly248Ser) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 31, 2017
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:
RCV000484356.1

Allele description [Variation Report for NM_025132.4(WDR19):c.742G>A (p.Gly248Ser)]

NM_025132.4(WDR19):c.742G>A (p.Gly248Ser)

Gene:
WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_025132.4(WDR19):c.742G>A (p.Gly248Ser)
HGVS:
  • NC_000004.12:g.39205588G>A
  • NG_031813.1:g.28185G>A
  • NM_001317924.2:c.262G>A
  • NM_025132.4:c.742G>AMANE SELECT
  • NP_001304853.1:p.Gly88Ser
  • NP_079408.3:p.Gly248Ser
  • NC_000004.11:g.39207208G>A
  • NM_025132.3:c.742G>A
Protein change:
G248S
Links:
dbSNP: rs1064796985
NCBI 1000 Genomes Browser:
rs1064796985
Molecular consequence:
  • NM_001317924.2:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025132.4:c.742G>A - 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
SCV000574285GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Mar 31, 2017) 		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, SCV000574285.4

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

Description

The G248S variant in the WDR19 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G248S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G248S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret G248S as a likely pathogenic variant.

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

Last Updated: Apr 23, 2022