NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 18, 2017
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:: RCV002442731.2

Allele description [Variation Report for NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)]

NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)

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.852C>A (p.Phe284Leu)

HGVS:

NC_000011.10:g.71437923G>T
NG_012655.2:g.15509C>A
NM_001163817.2:c.852C>A
NM_001360.3:c.852C>AMANE SELECT
NP_001157289.1:p.Phe284Leu
NP_001351.2:p.Phe284Leu
NP_001351.2:p.Phe284Leu
LRG_340t1:c.852C>A
LRG_340:g.15509C>A
LRG_340p1:p.Phe284Leu
NC_000011.9:g.71148969G>T
NM_001360.2:c.852C>A

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

F284L; PHE284LEU

Links:

OMIM: 602858.0019; dbSNP: rs184297154

NCBI 1000 Genomes Browser:

rs184297154

Molecular consequence:

NM_001163817.2:c.852C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001360.3:c.852C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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BEN domain containing 6 [Mus musculus]
BEN domain containing 6 [Mus musculus]
gi|34785744|gb|AAH57378.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002676747	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (Oct 18, 2017)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 10677299, 10814720, 12914579, 14556255, 9653161 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002676747

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(Oct 18, 2017)

germline

clinical testing

PubMed (5)
[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

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS.

Hum Mol Genet. 2000 May 22;9(9):1385-91. Erratum in: Hum Mol Genet 2000 Jul 22;9(12):1903.

PubMed [citation]

PMID:: 10814720

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002676747.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

The p.F284L variant (also known as c.852C>A), located in coding exon 6 of the DHCR7 gene, results from a C to A substitution at nucleotide position 852. The phenylalanine at codon 284 is replaced by leucine, an amino acid with highly similar properties. This variant was identified in a female infant with Hirschsprung disease, dysmorphic features including mild ptosis, short nose with anteverted nares, long philtrum, micrognathia, 2-3 toe syndactyly, and elevated 7-dehydrocholesterol levels; this variant was identified in conjunction with a second DHCR7 alteration (Yu H et al. Hum. Mol. Genet., 2000 May;9:1385-91; Mueller C et al. Am. J. Med. Genet. A, 2003 Nov;123A:100-6). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#	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

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