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NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 6, 2015
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:
RCV002321954.2

Allele description [Variation Report for NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)]

NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)

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.1138T>C (p.Cys380Arg)
HGVS:
  • NC_000011.10:g.71435665A>G
  • NG_012655.2:g.17767T>C
  • NM_001163817.2:c.1138T>C
  • NM_001360.3:c.1138T>CMANE SELECT
  • NP_001157289.1:p.Cys380Arg
  • NP_001351.2:p.Cys380Arg
  • NP_001351.2:p.Cys380Arg
  • LRG_340t1:c.1138T>C
  • LRG_340:g.17767T>C
  • LRG_340p1:p.Cys380Arg
  • NC_000011.9:g.71146711A>G
  • NM_001360.2:c.1138T>C
  • Q9UBM7:p.Cys380Arg
Protein change:
C380R
Links:
UniProtKB: Q9UBM7#VAR_023174; dbSNP: rs373306653
NCBI 1000 Genomes Browser:
rs373306653
Molecular consequence:
  • NM_001163817.2:c.1138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1138T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002606673Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Feb 6, 2015) 		germlineclinical testing

PubMed (2)
[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

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

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Siu VM, Krakowiak PA, Porter FD.

Am J Med Genet. 2001 Oct 15;103(3):223-5.

PubMed [citation]
PMID:
11745994

Details of each submission

From Ambry Genetics, SCV002606673.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.C380R pathogenic mutation (also known as c.1138T>C), located in coding exon 7 of the DHCR7 gene, results from a T to C substitution at nucleotide position 1138. The cysteine at codon 380 is replaced by arginine, an amino acid with highly dissimilar properties. This mutation was described along with a second pathogenic alteration in an infant with multiple dysplastic features, hypertension, and a biochemical diagnosis of Smith-Lemli-Opitz syndrome. However, phase (cis vs. trans) was not reported (Nowaczyk MJ, Am. J. Med. Genet. 2001 Oct; 103(3):223-5). In addition, in vitro studies demonstrated that this mutation decreases protein expression to 5% of wild type levels (Witsch-Baumgartner M, Am. J. Hum. Genet. 2000 Feb; 66(2):402-12). Another disease-causing mutation, p.C380Y has been described in the same codon. Based on the supporting evidence, p.C380R is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024