NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000478201.2

Allele description [Variation Report for NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)]

NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)

Gene:
ZSWIM6:zinc finger SWIM-type containing 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q12.1
Genomic location:
Preferred name:
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
HGVS:
  • NC_000005.10:g.61544156C>T
  • NG_053150.1:g.216884C>T
  • NM_020928.2:c.3487C>TMANE SELECT
  • NP_065979.1:p.Arg1163Trp
  • NC_000005.9:g.60839983C>T
  • NM_020928.1:c.3487C>T
  • Q9HCJ5:p.Arg1163Trp
Protein change:
R1163W; ARG1163TRP
Links:
UniProtKB: Q9HCJ5#VAR_071802; OMIM: 615951.0001; dbSNP: rs587777695
NCBI 1000 Genomes Browser:
rs587777695
Molecular consequence:
  • NM_020928.2:c.3487C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000568856GeneDxcriteria provided, single submitter
Pathogenic
(Oct 31, 2017)
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, SCV000568856.4

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

Description

The R1163W variant in the ZSWIM6 gene has been reported previously in association with acromelic frontonasal dysostosis (Smith et al., 2014). The R1163W variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1163W variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R1163W as a pathogenic variant

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

Last Updated: Oct 8, 2021

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