NM_024072.4(DDX54):c.1567C>T (p.Arg523Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 5, 2024
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:: RCV004205129.1

Allele description [Variation Report for NM_024072.4(DDX54):c.1567C>T (p.Arg523Cys)]

NM_024072.4(DDX54):c.1567C>T (p.Arg523Cys)

Gene:

DDX54:DEAD-box helicase 54 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

Preferred name:

NM_024072.4(DDX54):c.1567C>T (p.Arg523Cys)

HGVS:

NC_000012.12:g.113165880G>A
NM_001111322.2:c.1567C>T
NM_024072.4:c.1567C>TMANE SELECT
NP_001104792.1:p.Arg523Cys
NP_076977.3:p.Arg523Cys
NC_000012.11:g.113603685G>A
NM_001111322.1:c.1567C>T

Protein change:

R523C

Molecular consequence:

NM_001111322.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024072.4:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Cytochrome P450 Family 26
Cytochrome P450 Family 26
A cytochrome P450 enzyme family whose members function in the metabolism of RETINOIC ACID. It includes RETINOIC ACID 4-HYDROXYLASE.<br/>Year introduced: 2017

MeSH
Cytochrome P450 Family 19
Cytochrome P450 Family 19
A cytochrome P450 enzyme family that includes AROMATASE, which functions in the biosynthesis of ESTROGENS.<br/>Year introduced: 2017

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003707548	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003707548

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 5, 2024)

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 Ambry Genetics, SCV003707548.2

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

Description

The c.1567C>T (p.R523C) alteration is located in exon 13 (coding exon 13) of the DDX54 gene. This alteration results from a C to T substitution at nucleotide position 1567, causing the arginine (R) at amino acid position 523 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Oct 13, 2024

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