NM_002700.3(POU4F3):c.494_497del (p.His165fs) AND Autosomal dominant nonsyndromic hearing loss 15

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003881665.1

Allele description [Variation Report for NM_002700.3(POU4F3):c.494_497del (p.His165fs)]

NM_002700.3(POU4F3):c.494_497del (p.His165fs)

Genes:

POU4F3:POU class 4 homeobox 3 [Gene - OMIM - HGNC]
LOC127814297:RBM27-POU4F3 [Gene]

Variant type:

Deletion

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_002700.3(POU4F3):c.494_497del (p.His165fs)

HGVS:

NC_000005.10:g.146339921_146339924del
NG_011885.1:g.5898_5901del
NM_001414499.1:c.*363_*366del
NM_002700.3:c.494_497delMANE SELECT
NP_002691.1:p.His165fs
LRG_1355t1:c.494_497del
LRG_1355:g.5898_5901del
LRG_1355p1:p.His165fs
NC_000005.10:g.146339921_146339924delACAC
NC_000005.9:g.145719484_145719487del

Protein change:

H165fs

Molecular consequence:

NM_001414499.1:c.*363_*366del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_002700.3:c.494_497del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 15
Synonyms:: Deafness, autosomal dominant 15; DEAFNESS, AUTOSOMAL DOMINANT 52
Identifiers:: MONDO: MONDO:0011226; MedGen: C1865366; Orphanet: 90635; OMIM: 602459

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004697317	Institute of Human Genetics, University of Wuerzburg	no assertion criteria provided	Likely pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004697317

Institute of Human Genetics, University of Wuerzburg

no assertion criteria provided

Likely pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV004697317.1

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

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

Last Updated: Sep 1, 2024

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