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NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 27, 2023
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:
RCV003155296.1

Allele description [Variation Report for NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)]

NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)

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.1168C>T (p.His390Tyr)
HGVS:
  • NC_000011.10:g.71435635G>A
  • NG_012655.2:g.17797C>T
  • NM_001163817.2:c.1168C>T
  • NM_001360.3:c.1168C>TMANE SELECT
  • NP_001157289.1:p.His390Tyr
  • NP_001351.2:p.His390Tyr
  • NP_001351.2:p.His390Tyr
  • LRG_340t1:c.1168C>T
  • LRG_340:g.17797C>T
  • LRG_340p1:p.His390Tyr
  • NC_000011.9:g.71146681G>A
  • NM_001360.2:c.1168C>T
Protein change:
H390Y
Links:
dbSNP: rs544442568
NCBI 1000 Genomes Browser:
rs544442568
Molecular consequence:
  • NM_001163817.2:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003844262Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 27, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Association of Vitamin D Anabolism-Related Gene Polymorphisms and Susceptibility to Uterine Leiomyomas.

Xie S, Jiang M, Liu H, Xue F, Chen X, Zhu X.

Front Genet. 2022;13:844684. doi: 10.3389/fgene.2022.844684.

PubMed [citation]
PMID:
35795205
PMCID:
PMC9251306

Progressive Cholestasis and Biliary Cirrhosis After Initiating Oral Semaglutide: Report From the Drug-Induced Liver Injury Network.

Ma J, Mathur K, Muldoon JL, Ghabril M, Chalasani N, Vuppalanchi R.

ACG Case Rep J. 2022 Dec;9(12):e00922. doi: 10.14309/crj.0000000000000922.

PubMed [citation]
PMID:
36600793
PMCID:
PMC9794239

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844262.1

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

Description

Variant summary: DHCR7 c.1168C>T (p.His390Tyr) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.1e-05 in 246406 control chromosomes (gnomAD). This frequency is lower than the estimated maximum expected for a pathogenic variant in DHCR7 causing Smith-Lemli-Opitz Syndrome (0.0043), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1168C>T in individuals affected with Smith-Lemli-Opitz Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and all classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 8, 2024