NM_144705.4(TEKT4):c.809T>C (p.Val270Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 5, 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:: RCV004340995.1

Allele description [Variation Report for NM_144705.4(TEKT4):c.809T>C (p.Val270Ala)]

NM_144705.4(TEKT4):c.809T>C (p.Val270Ala)

Genes:

TEKT4:tektin 4 [Gene - HGNC]
LOC442028:uncharacterized LOC442028 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.1

Genomic location:

Preferred name:

NM_144705.4(TEKT4):c.809T>C (p.Val270Ala)

HGVS:

NC_000002.12:g.94874871T>C
NM_001286559.2:c.263T>C
NM_144705.4:c.809T>CMANE SELECT
NP_001273488.1:p.Val88Ala
NP_653306.1:p.Val270Ala
NC_000002.11:g.95540616T>C
NM_144705.2:c.809T>C

Protein change:

V270A

Molecular consequence:

NM_001286559.2:c.263T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_144705.4:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens ReSE screen-validated silencer GRCh37_chr11:57235875-57236324 (LOC1...
Homo sapiens ReSE screen-validated silencer GRCh37_chr11:57235875-57236324 (LOC129662932) on chromosome 11
gi|2496843195|ref|NG_159938.1|

Nucleotide
acyl-coenzyme A amino acid N-acyltransferase 1 isoform X1 [Mus musculus]
acyl-coenzyme A amino acid N-acyltransferase 1 isoform X1 [Mus musculus]
gi|568926526|ref|XP_006537902.1|

Protein
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Football
A competitive team sport played on a rectangular field.This is the American version of the game. It does not include non-North American football (= SOCCER)....<br/>Year introduced: 1976

MeSH
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Using ice skates, roller skates, or skateboards in racing or other competition or for recreation.<br/>Year introduced: 1990(1976)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004054841	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004054841

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 5, 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, SCV004054841.2

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

Description

The c.809T>C (p.V270A) alteration is located in exon 4 (coding exon 4) of the TEKT4 gene. This alteration results from a T to C substitution at nucleotide position 809, causing the valine (V) at amino acid position 270 to be replaced by an alanine (A). 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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