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NM_005474.5(HDAC5):c.1718G>A (p.Arg573Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 26, 2023
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:
RCV004401451.1

Allele description [Variation Report for NM_005474.5(HDAC5):c.1718G>A (p.Arg573Gln)]

NM_005474.5(HDAC5):c.1718G>A (p.Arg573Gln)

Gene:
HDAC5:histone deacetylase 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_005474.5(HDAC5):c.1718G>A (p.Arg573Gln)
HGVS:
  • NC_000017.11:g.44087578C>T
  • NM_001015053.2:c.1721G>A
  • NM_001382393.1:c.1718G>A
  • NM_005474.5:c.1718G>AMANE SELECT
  • NP_001015053.1:p.Arg574Gln
  • NP_001369322.1:p.Arg573Gln
  • NP_005465.2:p.Arg573Gln
  • NC_000017.10:g.42164946C>T
  • NM_001015053.1:c.1721G>A
Protein change:
R573Q
Molecular consequence:
  • NM_001015053.2:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382393.1:c.1718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005474.5:c.1718G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004879136Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 26, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004879136.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1721G>A (p.R574Q) alteration is located in exon 13 (coding exon 12) of the HDAC5 gene. This alteration results from a G to A substitution at nucleotide position 1721, causing the arginine (R) at amino acid position 574 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024