NM_144672.4(OTOA):c.1221del (p.Glu408fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 25, 2019
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:: RCV001557004.2

Allele description [Variation Report for NM_144672.4(OTOA):c.1221del (p.Glu408fs)]

NM_144672.4(OTOA):c.1221del (p.Glu408fs)

Gene:

OTOA:otoancorin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_144672.4(OTOA):c.1221del (p.Glu408fs)

HGVS:

NC_000016.10:g.21710004del
NG_012973.2:g.50872del
NM_001161683.2:c.984del
NM_144672.4:c.1221delMANE SELECT
NM_170664.3:c.249del
NP_001155155.1:p.Glu329fs
NP_653273.3:p.Glu408fs
NP_733764.1:p.Glu84fs
NC_000016.9:g.21721325del
NM_144672.3:c.1221delC

Protein change:

E329fs

Links:

dbSNP: rs2141688617

NCBI 1000 Genomes Browser:

rs2141688617

Molecular consequence:

NM_001161683.2:c.984del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144672.4:c.1221del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170664.3:c.249del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001778690	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 25, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001778690

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Nov 25, 2019)

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, SCV001778690.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

#	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: Dec 24, 2023

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