NM_005474.5(HDAC5):c.3283G>A (p.Gly1095Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 3, 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:: RCV004401462.1

Allele description [Variation Report for NM_005474.5(HDAC5):c.3283G>A (p.Gly1095Arg)]

NM_005474.5(HDAC5):c.3283G>A (p.Gly1095Arg)

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.3283G>A (p.Gly1095Arg)

HGVS:

NC_000017.11:g.44078546C>T
NM_001015053.2:c.3286G>A
NM_001382393.1:c.3283G>A
NM_005474.5:c.3283G>AMANE SELECT
NP_001015053.1:p.Gly1096Arg
NP_001369322.1:p.Gly1095Arg
NP_005465.2:p.Gly1095Arg
NC_000017.10:g.42155914C>T
NM_001015053.1:c.3286G>A

Protein change:

G1095R

Molecular consequence:

NM_001015053.2:c.3286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382393.1:c.3283G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005474.5:c.3283G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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pentapeptide repeat-containing protein [Campylobacter sp. RM10542]
pentapeptide repeat-containing protein [Campylobacter sp. RM10542]
gi|2699166901|ref|WP_337205295.1|

Protein
MULTISPECIES: aminotransferase class V-fold PLP-dependent enzyme [unclassified C...
MULTISPECIES: aminotransferase class V-fold PLP-dependent enzyme [unclassified Campylobacter]
gi|2699166890|ref|WP_337205284.1|

Protein
PREDICTED: Homo sapiens zinc finger protein 878 (ZNF878), transcript variant X1,...
PREDICTED: Homo sapiens zinc finger protein 878 (ZNF878), transcript variant X1, mRNA
gi|2462567250|ref|XM_054321925.1|

Nucleotide
Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA
Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA
gi|1519244891|ref|NM_005269.3|

Nucleotide
MAG TPA_asm: Porticoccaceae bacterium isolate UBA10400, whole genome shotgun seq...
MAG TPA_asm: Porticoccaceae bacterium isolate UBA10400, whole genome shotgun sequencing project
gi|1472904610|tpg|DNCD00000000.1|DN 00000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004879147	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 3, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004879147

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 3, 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, SCV004879147.1

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

Description

The c.3286G>A (p.G1096R) alteration is located in exon 26 (coding exon 25) of the HDAC5 gene. This alteration results from a G to A substitution at nucleotide position 3286, causing the glycine (G) at amino acid position 1096 to be replaced by an arginine (R). 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: May 7, 2024

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