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NM_001360.3(DHCR7):c.98+2_98+6del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 19, 2021)
Last evaluated:
Apr 20, 2021
Accession:
VCV000961893.3
Variation ID:
961893
Description:
5bp deletion
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NM_001360.3(DHCR7):c.98+2_98+6del

Allele ID
960013
Variant type
Deletion
Variant length
5 bp
Cytogenetic location
11q13.4
Genomic location
11: 71444849-71444853 (GRCh38) GRCh38 UCSC
11: 71155895-71155899 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.71155897_71155901del
NC_000011.10:g.71444851_71444855del
NM_001360.3:c.98+2_98+6del MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:71444848:CCTTACC:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 20, 2021 RCV001235655.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DHCR7 - - GRCh38
GRCh37
493 505

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 20, 2019)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Invitae
Accession: SCV001408349.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects a donor splice site in intron 3 of the DHCR7 gene. It is expected to disrupt RNA splicing and likely results … (more)
Likely pathogenic
(Apr 20, 2021)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001623357.1
Submitted: (May 19, 2021)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: DHCR7 c.98+2_98+6delTAAGG is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. Bianconi SE Expert opinion on orphan drugs 2015 PMID: 25734025
Mutational spectrum of Smith-Lemli-Opitz syndrome. Waterham HR American journal of medical genetics. Part C, Seminars in medical genetics 2012 PMID: 23042628
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Witsch-Baumgartner M American journal of human genetics 2000 PMID: 10677299
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Wassif CA American journal of human genetics 1998 PMID: 9634533

Record last updated Jun 14, 2021