NM_005474.5(HDAC5):c.3109C>G (p.Gln1037Glu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 2021
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:: RCV004112292.1

Allele description [Variation Report for NM_005474.5(HDAC5):c.3109C>G (p.Gln1037Glu)]

NM_005474.5(HDAC5):c.3109C>G (p.Gln1037Glu)

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.3109C>G (p.Gln1037Glu)

HGVS:

NC_000017.11:g.44078849G>C
NM_001015053.2:c.3112C>G
NM_001382393.1:c.3109C>G
NM_005474.5:c.3109C>GMANE SELECT
NP_001015053.1:p.Gln1038Glu
NP_001369322.1:p.Gln1037Glu
NP_005465.2:p.Gln1037Glu
NC_000017.10:g.42156217G>C
NM_001015053.1:c.3112C>G

Protein change:

Q1037E

Molecular consequence:

NM_001015053.2:c.3112C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382393.1:c.3109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005474.5:c.3109C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Homo sapiens SprT-like N-terminal domain (SPRTN), RefSeqGene on chromosome 1
Homo sapiens SprT-like N-terminal domain (SPRTN), RefSeqGene on chromosome 1
gi|767172200|ref|NG_042052.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003579470	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 12, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003579470

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 12, 2021)

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, SCV003579470.2

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

Description

The c.3112C>G (p.Q1038E) alteration is located in exon 25 (coding exon 24) of the HDAC5 gene. This alteration results from a C to G substitution at nucleotide position 3112, causing the glutamine (Q) at amino acid position 1038 to be replaced by a glutamic acid (E). 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: Nov 10, 2024

ClinVar

Relating variation to medicine