NM_005422.4(TECTA):c.840_841insT (p.Val281fs) AND Autosomal recessive nonsyndromic hearing loss 21

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 5, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000681541.1

Allele description [Variation Report for NM_005422.4(TECTA):c.840_841insT (p.Val281fs)]

NM_005422.4(TECTA):c.840_841insT (p.Val281fs)

Genes:

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

Variant type:

Insertion

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_005422.4(TECTA):c.840_841insT (p.Val281fs)

HGVS:

NC_000011.10:g.121118355_121118356insT
NG_011633.1:g.20690_20691insT
NM_001378761.1:c.1797_1798insT
NM_005422.4:c.840_841insTMANE SELECT
NP_001365690.1:p.Val600fs
NP_005413.2:p.Val281fs
NP_005413.2:p.Val281fs
NC_000011.9:g.120989064_120989065insT
NM_005422.2:c.840_841insT

Protein change:

V281fs

Links:

dbSNP: rs1565519673

NCBI 1000 Genomes Browser:

rs1565519673

Molecular consequence:

NM_001378761.1:c.1797_1798insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005422.4:c.840_841insT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000807733	National Institute on Deafness and Communication Disorders, National Institutes of Health	no assertion criteria provided	Pathogenic (Jul 5, 2018)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000807733

National Institute on Deafness and Communication Disorders, National Institutes of Health

no assertion criteria provided

Pathogenic
(Jul 5, 2018)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	yes	research

Details of each submission

From National Institute on Deafness and Communication Disorders, National Institutes of Health, SCV000807733.1

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

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

Last Updated: Jun 29, 2024

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