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NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 3, 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:
RCV002271517.8

Allele description [Variation Report for NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)]

NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)

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.719A>G (p.Asn240Ser)
HGVS:
  • NC_000011.10:g.71438991T>C
  • NG_012655.2:g.14441A>G
  • NM_001163817.2:c.719A>G
  • NM_001360.3:c.719A>GMANE SELECT
  • NP_001157289.1:p.Asn240Ser
  • NP_001351.2:p.Asn240Ser
  • NP_001351.2:p.Asn240Ser
  • LRG_340t1:c.719A>G
  • LRG_340:g.14441A>G
  • LRG_340p1:p.Asn240Ser
  • NC_000011.9:g.71150037T>C
  • NM_001360.2:c.719A>G
Protein change:
N240S
Links:
dbSNP: rs148609143
NCBI 1000 Genomes Browser:
rs148609143
Molecular consequence:
  • NM_001163817.2:c.719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.719A>G - 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
SCV002555618Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 3, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser NS, Solomon BD, Vilboux T, Khromykh A, Baveja R, Bodian DL.

Mol Genet Genomic Med. 2018 Mar;6(2):200-212. doi: 10.1002/mgg3.357. Epub 2018 Jan 25.

PubMed [citation]
PMID:
29368431
PMCID:
PMC5902396

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002555618.1

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

Description

Variant summary: DHCR7 c.719A>G (p.Asn240Ser) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00016 in 251374 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in DHCR7 causing Smith-Lemli-Opitz Syndrome (0.00016 vs 0.0043), allowing no conclusion about variant significance. c.719A>G has been reported in the literature in one individual affected with Cardiac defect (Hauser_2018). The report does not provide unequivocal conclusions about association of the variant with Smith-Lemli-Opitz Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight ClinVar submitters (evaluation after 2014) cite 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 26, 2024