NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 17, 2024
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:: RCV001755997.13

Allele description [Variation Report for NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr)]

NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr)

Genes:

TBCEL-TECTA:TBCEL-TECTA readthrough [Gene - HGNC]
TECTA:tectorin alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr)

HGVS:

NC_000011.10:g.121137586G>A
NG_011633.1:g.39921G>A
NM_001378761.1:c.4064G>A
NM_005422.4:c.3107G>AMANE SELECT
NP_001365690.1:p.Cys1355Tyr
NP_005413.2:p.Cys1036Tyr
NP_005413.2:p.Cys1036Tyr
NC_000011.9:g.121008295G>A
NM_005422.2:c.3107G>A

Protein change:

C1036Y

Links:

dbSNP: rs772606235

NCBI 1000 Genomes Browser:

rs772606235

Molecular consequence:

NM_001378761.1:c.4064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005422.4:c.3107G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]
gi|26327003|dbj|BAC27245.1|

Protein
Synthetic construct Homo sapiens clone IMAGE:100061635, MGC:190059 leprecan-like...
Synthetic construct Homo sapiens clone IMAGE:100061635, MGC:190059 leprecan-like 2 (LEPREL2) mRNA, encodes complete protein
gi|162317625|gb|BC156266.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001986329	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 17, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001986329

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 17, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001986329.5

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

Description

Identified in the heterozygous state in unrelated patients with nonsyndromic hearing loss in published literature (PMID: 21520338); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27368438, 30006058, 31589614, 29986705, 21520338, 31554319, 9590290)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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