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NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) AND DHCR7-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 3, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003415725.6

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:
DHCR7-related disorder
Synonyms:
DHCR7-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004114858PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(May 3, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114858.3

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

Description

The DHCR7 c.452G>A variant is predicted to result in premature protein termination (p.Trp151*). This variant has been reported to be causative for Smith-Lemli-Opitz syndrome (SLOS) (Fitzky et al. 1998. PubMed ID: 9653161; Witsch-Baumgartner et al. 2001. PubMed ID: 11175299; Waterham and Hennekam. 2012. PubMed ID: 23042628). It is one of the most commonly reported causative DHCR7 variants among affected individuals of European descent (Witsch-Baumgartner et al. 2001. PubMed ID: 11175299; Ciara et al. 2006. PubMed ID: 16497572; Witsch-Baumgartner et al. 2008. PubMed ID: 17965227). This variant is reported in 0.14% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in DHCR7 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024