NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 22, 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:: RCV002371766.2

Allele description [Variation Report for NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)]

NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)

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.866C>T (p.Thr289Ile)

HGVS:

NC_000011.10:g.71437909G>A
NG_012655.2:g.15523C>T
NM_001163817.2:c.866C>T
NM_001360.3:c.866C>TMANE SELECT
NP_001157289.1:p.Thr289Ile
NP_001351.2:p.Thr289Ile
NP_001351.2:p.Thr289Ile
LRG_340t1:c.866C>T
LRG_340:g.15523C>T
LRG_340p1:p.Thr289Ile
NC_000011.9:g.71148955G>A
NM_001360.2:c.866C>T
Q9UBM7:p.Thr289Ile

Protein change:

T289I; THR289ILE

Links:

UniProtKB: Q9UBM7#VAR_012725; OMIM: 602858.0015; dbSNP: rs121909765

NCBI 1000 Genomes Browser:

rs121909765

Molecular consequence:

NM_001163817.2:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001360.3:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002684438	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 22, 2019)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 10677299, 10995508, 11298379, 12070263, 12914579, 23042628, 29300326 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002684438

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 22, 2019)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD.

Am J Med Genet. 2000 Sep 18;94(3):214-27.

PubMed [citation]

PMID:: 10995508

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV002684438.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

The p.T289I pathogenic mutation (also known as c.866C>T), located in coding exon 6 of the DHCR7 gene, results from a C to T substitution at nucleotide position 866. The threonine at codon 289 is replaced by isoleucine, an amino acid with similar properties. This mutation has been reported in multiple individuals with Smith-Lemli-Opitz syndrome, in conjunction with a second disease-causing allele (Krakowiak PA et al. Am. J. Med. Genet., 2000 Sep;94:214-27; Nowaczyk MJ et al. Am. J. Med. Genet., 2001 Apr;100:162-3). Based on data from gnomAD, the T allele has an overall frequency of approximately 0.0016% (4/251110). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine