NM_001360.2(DHCR7):c.1A>C (p.Met1Leu) AND Smith-Lemli-Opitz syndrome

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000856756.1

Allele description [Variation Report for NM_001360.2(DHCR7):c.1A>C (p.Met1Leu)]

NM_001360.2(DHCR7):c.1A>C (p.Met1Leu)

Gene:
DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001360.2(DHCR7):c.1A>C (p.Met1Leu)
HGVS:
  • NC_000011.10:g.71444952T>G
  • NG_012655.2:g.8480A>C
  • NM_001163817.2:c.1A>C
  • NM_001360.2:c.1A>C
  • NP_001157289.1:p.Met1Leu
  • NP_001351.2:p.Met1Leu
  • LRG_340t1:c.1A>C
  • LRG_340:g.8480A>C
  • LRG_340p1:p.Met1Leu
  • NC_000011.9:g.71155998T>G
Protein change:
M1L
Links:
dbSNP: rs104886033
NCBI 1000 Genomes Browser:
rs104886033
Molecular consequence:
  • NM_001163817.2:c.1A>C - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001360.2:c.1A>C - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001163817.2:c.1A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.2:c.1A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Smith-Lemli-Opitz syndrome (SLOS)
Synonyms:
LETHAL ACRODYSGENITAL SYNDROME; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010035; MedGen: C0175694; Orphanet: 818; OMIM: 270400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000999306Institute for Genomic Statistics and Bioinformatics, University Hospital Bonncriteria provided, single submitter
Pathogenicunknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, SCV000999306.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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