NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) AND History of neurodevelopmental disorder

Clinical significance:Uncertain significance (Last evaluated: May 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718621.1

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]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849485Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 24, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000849485.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R450H variant (also known as c.1349G>A), located in coding exon 7 of the DHCR7 gene, results from a G to A substitution at nucleotide position 1349. The arginine at codon 450 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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