NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter) AND Autosomal recessive nonsyndromic hearing loss 21

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 1, 2020
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:: RCV000454140.3

Allele description [Variation Report for NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter)]

NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter)

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.4857C>A (p.Cys1619Ter)

HGVS:

NC_000011.10:g.121160302C>A
NG_011633.1:g.62637C>A
NM_001378761.1:c.5814C>A
NM_005422.4:c.4857C>AMANE SELECT
NP_001365690.1:p.Cys1938Ter
NP_005413.2:p.Cys1619Ter
NP_005413.2:p.Cys1619Ter
NC_000011.9:g.121031011C>A
NM_005422.2:c.4857C>A

Protein change:

C1619*

Links:

dbSNP: rs764153521

NCBI 1000 Genomes Browser:

rs764153521

Molecular consequence:

NM_001378761.1:c.5814C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_005422.4:c.4857C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 21
Synonyms:: Deafness, autosomal recessive 21
Identifiers:: MONDO: MONDO:0011351; MedGen: C1863655; Orphanet: 90636; OMIM: 603629

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000538124	Hereditary Research Laboratory, Bethlehem University	no assertion criteria provided	Pathogenic (Jun 4, 2016)	germline	research
SCV002059914	King Laboratory, University of Washington	criteria provided, single submitter (Abu Rayyan A et al. (Proc Natl Acad Sci U S A 2020))	Pathogenic (Aug 1, 2020)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000538124

Hereditary Research Laboratory, Bethlehem University

no assertion criteria provided

Pathogenic
(Jun 4, 2016)

germline

research

SCV002059914

King Laboratory, University of Washington

criteria provided, single submitter

(Abu Rayyan A et al. (Proc Natl Acad Sci U S A 2020))

Pathogenic
(Aug 1, 2020)

germline

research

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

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	research

Citations

PubMed

Genomic analysis of inherited hearing loss in the Palestinian population.

Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C, Dweik D, Jaraysa T, Rabie G, Carlson RJ, Gulsuner S, Lee MK, Avraham KB, Walsh T, King MC, Kanaan MN.

Proc Natl Acad Sci U S A. 2020 Aug 18;117(33):20070-20076. doi: 10.1073/pnas.2009628117. Epub 2020 Aug 3.

PubMed [citation]

PMID:: 32747562
PMCID:: PMC7443947

Details of each submission

From Hereditary Research Laboratory, Bethlehem University, SCV000538124.1

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

Description

Moderate to severe

#	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

From King Laboratory, University of Washington, SCV002059914.1

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

Description

TECTA c.4857C>A, p.C1619* is homozygous in 24 children from 7 Palestinian families with pre-lingual moderate hearing loss (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and absent from gnomAD v2.1.1.

#	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: Jan 21, 2023

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