NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Sep 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001556929.2

Allele description [Variation Report for NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)]

NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)

Gene:
DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)
HGVS:
  • NC_000011.10:g.71435454C>T
  • NG_012655.2:g.17978G>A
  • NM_001163817.2:c.1349G>A
  • NM_001360.2:c.1349G>A
  • NM_001360.3:c.1349G>AMANE SELECT
  • NP_001157289.1:p.Arg450His
  • NP_001351.2:p.Arg450His
  • NP_001351.2:p.Arg450His
  • LRG_340t1:c.1349G>A
  • LRG_340:g.17978G>A
  • LRG_340p1:p.Arg450His
  • NC_000011.9:g.71146500C>T
Protein change:
R450H
Links:
dbSNP: rs542266962
NCBI 1000 Genomes Browser:
rs542266962
Molecular consequence:
  • NM_001163817.2:c.1349G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.2:c.1349G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1349G>A - 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
SCV001778601GeneDxcriteria provided, single submitter
Likely pathogenic
(Sep 2, 2020)
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, SCV001778601.1

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

Description

Identified by exome sequencing in one individual from a cohort of patients with autism, however additional clinical information on this patient was not provided and variant was listed as uncertain significance (Saskin et al., 2017).; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28250423)

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

Last Updated: Oct 25, 2021

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