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NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2019
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:
RCV002316028.9

Allele description [Variation Report for NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)]

NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)

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.1087C>T (p.Arg363Cys)
HGVS:
  • NC_000011.10:g.71435716G>A
  • NG_012655.2:g.17716C>T
  • NM_001163817.2:c.1087C>T
  • NM_001360.3:c.1087C>TMANE SELECT
  • NP_001157289.1:p.Arg363Cys
  • NP_001351.2:p.Arg363Cys
  • NP_001351.2:p.Arg363Cys
  • LRG_340t1:c.1087C>T
  • LRG_340:g.17716C>T
  • LRG_340p1:p.Arg363Cys
  • NC_000011.9:g.71146762G>A
  • NM_001360.2:c.1087C>T
Protein change:
R363C
Links:
dbSNP: rs547012639
NCBI 1000 Genomes Browser:
rs547012639
Molecular consequence:
  • NM_001163817.2:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1087C>T - 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
SCV000847420Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 14, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Patrono C, Dionisi-Vici C, Giannotti A, Bembi B, Digilio MC, Rizzo C, Purificato C, Martini C, Pierini R, Santorelli FM.

Mol Cell Probes. 2002 Aug;16(4):315-8.

PubMed [citation]
PMID:
12270273

Details of each submission

From Ambry Genetics, SCV000847420.5

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

Description

The p.R363C variant (also known as c.1087C>T), located in coding exon 7 of the DHCR7 gene, results from a C to T substitution at nucleotide position 1087. The arginine at codon 363 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was identified in an individual suspicious for Smith-Lemli-Opitz syndrome who also carried the p.V330M variant; however, this individual did not have elevated levels of 7DHC and cholesterol levels were not measured (Patrono C et al. Mol. Cell. Probes, 2002 Aug;16:315-8). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024