NM_014844.5(TECPR2):c.818G>A (p.Arg273His) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 14, 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:: RCV002563934.2

Allele description [Variation Report for NM_014844.5(TECPR2):c.818G>A (p.Arg273His)]

NM_014844.5(TECPR2):c.818G>A (p.Arg273His)

Gene:

TECPR2:tectonin beta-propeller repeat containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.31

Genomic location:

Preferred name:

NM_014844.5(TECPR2):c.818G>A (p.Arg273His)

HGVS:

NC_000014.9:g.102425158G>A
NG_042851.1:g.67247G>A
NM_001172631.3:c.818G>A
NM_014844.5:c.818G>AMANE SELECT
NP_001166102.1:p.Arg273His
NP_055659.2:p.Arg273His
NC_000014.8:g.102891495G>A
NC_000014.8:g.102891495G>A
NM_014844.3:c.818G>A
NM_014844.4:c.818G>A

Protein change:

R273H

Links:

dbSNP: rs144069125

NCBI 1000 Genomes Browser:

rs144069125

Molecular consequence:

NM_001172631.3:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014844.5:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003709282	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 14, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003709282

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 14, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.

Taghizadeh S, Vazehan R, Beheshtian M, Sadeghinia F, Fattahi Z, Mohseni M, Arzhangi S, Nafissi S, Kariminejad A, Najmabadi H, Kahrizi K.

Arch Iran Med. 2020 Jul 1;23(7):426-433. doi: 10.34172/aim.2020.39.

PubMed [citation]

PMID:: 32657593

Details of each submission

From Ambry Genetics, SCV003709282.2

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

Description

The c.818G>A (p.R273H) alteration is located in exon 6 (coding exon 5) of the TECPR2 gene. This alteration results from a G to A substitution at nucleotide position 818, causing the arginine (R) at amino acid position 273 to be replaced by a histidine (H). 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: Sep 29, 2024

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