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NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 3, 2016
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:
RCV002453569.3

Allele description [Variation Report for NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)]

NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)

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.1139G>A (p.Cys380Tyr)
HGVS:
  • NC_000011.10:g.71435664C>T
  • NG_012655.2:g.17768G>A
  • NM_001163817.2:c.1139G>A
  • NM_001360.3:c.1139G>AMANE SELECT
  • NP_001157289.1:p.Cys380Tyr
  • NP_001351.2:p.Cys380Tyr
  • NP_001351.2:p.Cys380Tyr
  • LRG_340t1:c.1139G>A
  • LRG_340:g.17768G>A
  • LRG_340p1:p.Cys380Tyr
  • NC_000011.9:g.71146710C>T
  • NM_001360.2:c.1139G>A
  • Q9UBM7:p.Cys380Tyr
  • c.1139G>A (p.Cys380Tyr)
Protein change:
C380Y
Links:
UniProtKB: Q9UBM7#VAR_023175; dbSNP: rs779709646
NCBI 1000 Genomes Browser:
rs779709646
Molecular consequence:
  • NM_001163817.2:c.1139G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1139G>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002612936Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Feb 3, 2016)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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

Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.

Pappu AS, Connor WE, Merkens LS, Jordan JM, Penfield JA, Illingworth DR, Steiner RD.

J Lipid Res. 2006 Dec;47(12):2789-98. Epub 2006 Sep 18.

PubMed [citation]
PMID:
16983147
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002612936.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.C380Y pathogenic mutation (also known as c.1139G>A), located in coding exon 7 of the DHCR7 gene, results from a G to A substitution at nucleotide position 1139. The cysteine at codon 380 is replaced by tyrosine, an amino acid with highly dissimilar properties. This mutation has been observed in homozygous and heterozygous states in multiple individuals with clinical and biochemical features characteristic of Smith-Lemli-Optiz syndrome (SLOS) (Witsch-Baumgartner M, et al. Am. J. Hum. Genet. 2000; 66(2):402-12, Pappu AS, et al. J. Lipid Res. 2006; 47(12):2789-98, Bukelis I, et al. Am J Psychiatry 2007; 164(11):1655-61). In one study using an immunoreactivity assay, protein expression of this alteration was observed to be 40% of wild type levels (Witsch-Baumgartner M, et al. Am. J. Hum. Genet. 2000; 66(2):402-12). In addition, a different mutation located at the same position, p.C380R, has been detected in individuals with SLOS, and was shown to decrease protein expression to 5% of wild type levels (Witsch-Baumgartner M, et al. Am. J. Hum. Genet. 2000; 66(2):402-12, Nowaczyk MJ, et al. Am. J. Med. Genet. 2001; 103(3):223-5). Based on the supporting evidence, p.C380Y is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024