NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter) AND Desmosterolosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 10, 2020
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:: RCV001027855.1

Allele description [Variation Report for NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter)]

NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter)

Gene:

DHCR24:24-dehydrocholesterol reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

Preferred name:

NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter)

HGVS:

NC_000001.11:g.54852304G>A
NG_008839.1:g.39945C>T
NM_014762.4:c.1480C>TMANE SELECT
NP_055577.1:p.Arg494Ter
LRG_1272t1:c.1480C>T
LRG_1272:g.39945C>T
LRG_1272p1:p.Arg494Ter
NC_000001.10:g.55317977G>A

Protein change:

R494*

Links:

dbSNP: rs563822834

NCBI 1000 Genomes Browser:

rs563822834

Molecular consequence:

NM_014762.4:c.1480C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Desmosterolosis
Identifiers:: MONDO: MONDO:0011217; MedGen: C1865596; Orphanet: 35107; OMIM: 602398

Recent activity

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P-loop containing nucleoside triphosphate hydrolases superfamily protein [Arabid...
P-loop containing nucleoside triphosphate hydrolases superfamily protein [Arabidopsis thaliana]
gi|15240788|ref|NP_201564.1|

Protein
Phlda2 pleckstrin homology-like domain, family A, member 2 [Rattus norvegicus]
Phlda2 pleckstrin homology-like domain, family A, member 2 [Rattus norvegicus]
Gene ID:293637

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190486	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 10, 2020)	paternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001190486

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 10, 2020)

paternal

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	unknown	1	not provided	not provided	1	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001190486.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

Description

ACMG codes: PM2, PP4

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

Last Updated: Apr 23, 2022

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