NM_182765.6(HECTD2):c.119C>T (p.Ala40Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 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:: RCV004401791.1

Allele description [Variation Report for NM_182765.6(HECTD2):c.119C>T (p.Ala40Val)]

NM_182765.6(HECTD2):c.119C>T (p.Ala40Val)

Genes:

LOC130004338:ATAC-STARR-seq lymphoblastoid silent region 2607 [Gene]
HECTD2:HECT domain E3 ubiquitin protein ligase 2 [Gene - HGNC]
HECTD2-AS1:HECTD2 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.32

Genomic location:

Preferred name:

NM_182765.6(HECTD2):c.119C>T (p.Ala40Val)

HGVS:

NC_000010.11:g.91410557C>T
NG_183783.1:g.547C>T
NM_001284274.3:c.119C>T
NM_001348365.2:c.-184+1136C>T
NM_173497.4:c.119C>T
NM_182765.6:c.119C>TMANE SELECT
NP_001271203.2:p.Ala40Val
NP_775768.4:p.Ala40Val
NP_877497.4:p.Ala40Val
NC_000010.10:g.93170314C>T
NM_182765.3:c.119C>T
NR_104291.3:n.214C>T
NR_145526.2:n.214C>T

Protein change:

A40V

Molecular consequence:

NM_001348365.2:c.-184+1136C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001284274.3:c.119C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_173497.4:c.119C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_182765.6:c.119C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_104291.3:n.214C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_145526.2:n.214C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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odorant-binding protein 2a isoform X2 [Rattus norvegicus]
odorant-binding protein 2a isoform X2 [Rattus norvegicus]
gi|2678927549|ref|XP_063139256.1|

Protein
Codon, Terminator
Codon, Terminator
Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the amin...<br/>Year introduced: 1995

MeSH
5' Untranslated Regions
5' Untranslated Regions
The sequence at the 5' end of the messenger RNA that does not code for product. This sequence contains the ribosome binding site and other transcription and translation regula...<br/>Year introduced: 1999

MeSH
Chlorpromazine
Chlorpromazine
The prototypical phenothiazine antipsychotic drug. Like the other drugs in this class chlorpromazine's antipsychotic actions are thought to be due to long-term adaptation by t...<br/>Year introduced: /adv eff-pois-tox was CHLORPROMAZINE TOXICOLOGY 1963-1965

MeSH
Promazine
Promazine
A phenothiazine with actions similar to CHLORPROMAZINE but with less antipsychotic activity. It is primarily used in short-term treatment of disturbed behavior and as an antie...<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004881206	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004881206

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 17, 2023)

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, SCV004881206.1

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

Description

The c.119C>T (p.A40V) alteration is located in exon 1 (coding exon 1) of the HECTD2 gene. This alteration results from a C to T substitution at nucleotide position 119, causing the alanine (A) at amino acid position 40 to be replaced by a valine (V). 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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