NM_182765.6(HECTD2):c.455A>G (p.His152Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 3, 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:: RCV004314237.1

Allele description [Variation Report for NM_182765.6(HECTD2):c.455A>G (p.His152Arg)]

NM_182765.6(HECTD2):c.455A>G (p.His152Arg)

Genes:

HECTD2:HECT domain E3 ubiquitin protein ligase 2 [Gene - OMIM - 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.455A>G (p.His152Arg)

HGVS:

NC_000010.11:g.91461301A>G
NM_001284274.3:c.455A>G
NM_001348365.2:c.134A>G
NM_173497.4:c.455A>G
NM_182765.6:c.455A>GMANE SELECT
NP_001271203.2:p.His152Arg
NP_001335294.1:p.His45Arg
NP_775768.4:p.His152Arg
NP_877497.4:p.His152Arg
NC_000010.10:g.93221058A>G
NM_182765.3:c.455A>G
NR_104291.3:n.550A>G
NR_145526.2:n.550A>G

Protein change:

H152R

Molecular consequence:

NM_001284274.3:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348365.2:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_173497.4:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_182765.6:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104291.3:n.550A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_145526.2:n.550A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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protein kinase C-binding protein NELL2 isoform X1 [Rattus norvegicus]
protein kinase C-binding protein NELL2 isoform X1 [Rattus norvegicus]
gi|672060326|ref|XP_008764020.1|

Protein
Arabidopsis thaliana photosystem II light harvesting complex protein B1B2 (LHB1B...
Arabidopsis thaliana photosystem II light harvesting complex protein B1B2 (LHB1B2), mRNA
gi|145360606|ref|NM_128994.3|

Nucleotide
Arabidopsis thaliana myb domain protein 97 (MYB97), mRNA
Arabidopsis thaliana myb domain protein 97 (MYB97), mRNA
gi|1063725201|ref|NM_118827.2|

Nucleotide
PREDICTED: Rattus norvegicus odorant binding protein 2B (Obp2b), transcript vari...
PREDICTED: Rattus norvegicus odorant binding protein 2B (Obp2b), transcript variant X7, mRNA
gi|2678927552|ref|XM_063283188.1|

Nucleotide
Socioenvironmental Therapy
Socioenvironmental Therapy
Therapy whose primary emphasis is on the physical and social structuring of the environment to promote interpersonal relationships which will be influential in reducing behavi...<br/>Year introduced: 1973

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003975217	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 3, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003975217

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 3, 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, SCV003975217.2

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

Description

The c.455A>G (p.H152R) alteration is located in exon 4 (coding exon 4) of the HECTD2 gene. This alteration results from a A to G substitution at nucleotide position 455, causing the histidine (H) at amino acid position 152 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: Nov 3, 2024

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