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NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 11, 2020
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:
RCV002336089.3

Allele description [Variation Report for NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)]

NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)

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.452G>A (p.Trp151Ter)
HGVS:
  • NC_000011.10:g.71441401C>T
  • NG_012655.2:g.12031G>A
  • NM_001163817.2:c.452G>A
  • NM_001360.3:c.452G>AMANE SELECT
  • NP_001157289.1:p.Trp151Ter
  • NP_001351.2:p.Trp151Ter
  • NP_001351.2:p.Trp151Ter
  • LRG_340t1:c.452G>A
  • LRG_340:g.12031G>A
  • LRG_340p1:p.Trp151Ter
  • NC_000011.9:g.71152447C>T
  • NM_001163817.1:c.452G>A
  • NM_001360.2:c.452G>A
  • NM_001360.3:c.452G>A
  • NP_001351.2:p.Trp151*
  • c.452G>A (p.Trp151*)
  • p.Trp151X
Protein change:
W151*
Links:
dbSNP: rs11555217
NCBI 1000 Genomes Browser:
rs11555217
Molecular consequence:
  • NM_001163817.2:c.452G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001360.3:c.452G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002638504Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Feb 11, 2020) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF.

Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8181-6.

PubMed [citation]
PMID:
9653161
PMCID:
PMC20950

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G.

Am J Hum Genet. 2000 Feb;66(2):402-12.

PubMed [citation]
PMID:
10677299
PMCID:
PMC1288092
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV002638504.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The c.452G>A (p.W151*) alteration, located in exon 6 (coding exon 4) of the DHCR7 gene, consists of a G to A substitution at nucleotide position 452. This changes the amino acid from a tryptophan (W) to a stop codon at amino acid position 151. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This recurrent mutation has been documented to account for 6.9% of mutant alleles in DHCR7 and has been reported in the homozygous state and in trans with a second DHCR7 alteration in multiple patients with Smith Lemli Opitz syndrome (SLOS) (Fitzky, 1998; Witsch-Baumgartner, 2000; Löffler, 2000; Krakowiak, 2000; Lazarin, 2017). In addition, this was the second most commonly seen mutation on carrier screens elected from 2012-2015 (Lazarin, 2013). One study found that the carrier frequency of this mutation in Ashkenazi Jewish individuals may be as high as 1/40 and 1/122 in non-Ashkenazi Jewish individuals (Shi, 2017). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Oct 13, 2024