U.S. flag

An official website of the United States government

NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del) AND Smith-Lemli-Opitz syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 2022
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:
RCV003062428.2

Allele description [Variation Report for NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del)]

NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del)

Gene:
DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del)
HGVS:
  • NC_000011.10:g.71437921AAG[1]
  • NG_012655.2:g.15508TCT[1]
  • NM_001163817.2:c.851TCT[1]
  • NM_001360.3:c.851TCT[1]MANE SELECT
  • NP_001157289.1:p.Phe285del
  • NP_001351.2:p.Phe285del
  • NP_001351.2:p.Phe285del
  • LRG_340t1:c.849_851CTT[1]
  • LRG_340:g.15508TCT[1]
  • LRG_340p1:p.Phe285del
  • NC_000011.9:g.71148965_71148967del
  • NC_000011.9:g.71148967AAG[1]
  • NM_001360.2:c.849_851CTT[1]
Protein change:
F285del
Molecular consequence:
  • NM_001163817.2:c.851TCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001360.3:c.851TCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003439845Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 19, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

Kalb S, Caglayan AO, Degerliyurt A, Schmid S, Ceylaner S, Hatipoglu N, Hinderhofer K, Rehder H, Kurtoglu S, Ceylaner G, Zschocke J, Witsch-Baumgartner M.

Clin Genet. 2012 Jun;81(6):598-601. doi: 10.1111/j.1399-0004.2011.01750.x. Epub 2011 Dec 28. No abstract available.

PubMed [citation]
PMID:
22211794

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003439845.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant, c.854_856del, results in the deletion of 1 amino acid(s) of the DHCR7 protein (p.Phe285del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 22211794). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024