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NM_001360.3(DHCR7):c.1A>G (p.Met1Val) AND DHCR7-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003390651.5

Allele description [Variation Report for NM_001360.3(DHCR7):c.1A>G (p.Met1Val)]

NM_001360.3(DHCR7):c.1A>G (p.Met1Val)

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.1A>G (p.Met1Val)
Other names:
p.Met1?
HGVS:
  • NC_000011.10:g.71444952T>C
  • NG_012655.2:g.8480A>G
  • NM_001163817.2:c.1A>G
  • NM_001360.3:c.1A>GMANE SELECT
  • NP_001157289.1:p.Met1Val
  • NP_001351.2:p.Met1Val
  • NP_001351.2:p.Met1Val
  • LRG_340t1:c.1A>G
  • LRG_340:g.8480A>G
  • LRG_340p1:p.Met1Val
  • NC_000011.9:g.71155998T>C
  • NM_001163817.1:c.1A>G
  • NM_001163817.2:c.1A>G
  • NM_001360.2:c.1A>G
Protein change:
M1V; MET1VAL
Links:
OMIM: 602858.0020; dbSNP: rs104886033
NCBI 1000 Genomes Browser:
rs104886033
Molecular consequence:
  • NM_001163817.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001360.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001163817.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
DHCR7-related disorder
Synonyms:
DHCR7-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004121218PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 15, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004121218.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The DHCR7 c.1A>G variant is predicted to disrupt the translation initiation site (Start loss). This variant, which is sometimes described in the literature as p.M1V, has been reported in multiple individuals with Smith-Lemli-Opitz syndrome (Witsch-Baumgartner et al. 2005. PubMed ID: 15776424; Pappu et al. 2006. PubMed ID: 16983147; Bianconi et al. 2011. PubMed ID: 21990131). This variant is reported in 0.0028% of alleles in individuals of Latino descent in gnomAD. This variant is interpreted as pathogenic.

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

Last Updated: Jan 13, 2025