NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000756011.8

Allele description [Variation Report for NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp)]

NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp)

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.58A>G (p.Asn20Asp)

HGVS:

NC_000011.10:g.71444895T>C
NG_012655.2:g.8537A>G
NM_001163817.2:c.58A>G
NM_001360.3:c.58A>GMANE SELECT
NP_001157289.1:p.Asn20Asp
NP_001351.2:p.Asn20Asp
NP_001351.2:p.Asn20Asp
LRG_340t1:c.58A>G
LRG_340:g.8537A>G
LRG_340p1:p.Asn20Asp
NC_000011.9:g.71155941T>C
NM_001163817.1:c.58A>G
NM_001360.2:c.58A>G

Protein change:

N20D

Links:

dbSNP: rs772572550

NCBI 1000 Genomes Browser:

rs772572550

Molecular consequence:

NM_001163817.2:c.58A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001360.3:c.58A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000883708	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Dec 12, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000883708

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Dec 12, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883708.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The DHCR7 c.58A>G; p.Asn20Asp variant is not described in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is listed in the dbSNP variant database (rs772572550) and in the Genome Aggregation Database in 24/277244 alleles. The asparagine at this position is moderately conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. Considering available information, there is insufficient evidence to classify this variant with certainty.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 4, 2023

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