NM_001360.3(DHCR7):c.1156_1158delinsAAC (p.Asp386Asn) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 13, 2018
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:: RCV002355374.2

Allele description [Variation Report for NM_001360.3(DHCR7):c.1156_1158delinsAAC (p.Asp386Asn)]

NM_001360.3(DHCR7):c.1156_1158delinsAAC (p.Asp386Asn)

Gene:

DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

11q13.4

Genomic location:

Preferred name:

NM_001360.3(DHCR7):c.1156_1158delinsAAC (p.Asp386Asn)

HGVS:

NC_000011.10:g.71435645_71435647delinsGTT
NG_012655.2:g.17785_17787delinsAAC
NM_001163817.2:c.1156_1158delinsAAC
NM_001360.3:c.1156_1158delinsAACMANE SELECT
NP_001157289.1:p.Asp386Asn
NP_001351.2:p.Asp386Asn
NP_001351.2:p.Asp386Asn
LRG_340t1:c.1156_1158delGATinsAAC
LRG_340:g.17785_17787delinsAAC
LRG_340p1:p.Asp386Asn
NC_000011.9:g.71146691_71146693delinsGTT
NM_001360.2:c.1156_1158delGATinsAAC

Protein change:

D386N

Molecular consequence:

NM_001163817.2:c.1156_1158delinsAAC - missense variant - [Sequence Ontology: SO:0001583]
NM_001360.3:c.1156_1158delinsAAC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002623238	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 13, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002623238

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 13, 2018)

germline

clinical testing

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

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

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

Cross JL, Iben J, Simpson CL, Thurm A, Swedo S, Tierney E, Bailey-Wilson JE, Biesecker LG, Porter FD, Wassif CA.

Clin Genet. 2015 Jun;87(6):570-5. doi: 10.1111/cge.12425. Epub 2014 Jun 6.

PubMed [citation]

PMID:: 24813812
PMCID:: PMC4225182

Details of each submission

From Ambry Genetics, SCV002623238.2

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

Description

The c.1156_1158delGATinsAAC variant (also known as p.D386N), located in coding exon 7 of the DHCR7 gene. This alteration results from an in-frame deletion of GAT and insertion of AAC at nucleotide positions 1156 to 1158. This results in the substitution of the aspartic acid residue for an asparagine residue at codon 386, an amino acid with highly similar properties. An alteration resulting in the same amino acid change, p.D386N (c.1156G>A), was identified in a study that aimed to determine the allele carrier frequency of Smith-Lemli-Opitz syndrome (SLOS); however, clinical information was limited (Cross JL et al. Clin. Genet., 2015 Jun;87:570-5). This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 1, 2024

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