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NM_001360.2(DHCR7):c.231C>T (p.Thr77=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 3, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000093716.10
Variation ID:
93716
Description:
single nucleotide variant
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NM_001360.2(DHCR7):c.231C>T (p.Thr77=)

Allele ID
99619
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.4
Genomic location
11: 71444083 (GRCh38) GRCh38 UCSC
11: 71155129 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_340t1:c.231C>T LRG_340p1:p.Thr77=
LRG_340:g.9349C>T
NC_000011.10:g.71444083G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:71444082:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.10523 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.08400
The Genome Aggregation Database (gnomAD), exomes 0.07801
Exome Aggregation Consortium (ExAC) 0.08443
The Genome Aggregation Database (gnomAD) 0.08643
1000 Genomes Project 0.10523
Trans-Omics for Precision Medicine (TOPMed) 0.08356
Links
ClinGen: CA147245
dbSNP: rs4316537
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jul 11, 2013 RCV000079650.7
Benign 5 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000329907.8
Benign 1 criteria provided, single submitter Mar 23, 2016 RCV000715281.2
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001705738.1
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307644.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jul 11, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111533.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(May 15, 2017)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000677271.1
Submitted: (Jul 17, 2017)
Evidence details
Publications
PubMed (1)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000373926.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Mar 23, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000846109.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Benign
(Feb 17, 2020)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000603305.4
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Invitae
Accession: SCV001729862.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001749266.1
Submitted: (Jul 11, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001828802.1
Submitted: (Sep 03, 2021)
Evidence details

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
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. Waterham HR Biochimica et biophysica acta 2000 PMID: 11111101
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DHCR7 - - - -

Text-mined citations for rs4316537...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 26, 2021