NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro) AND Autosomal dominant nonsyndromic hearing loss 36

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 23, 2023
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:: RCV003155538.2

Allele description [Variation Report for NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro)]

NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro)

HGVS:

NC_000001.11:g.215671141A>G
NG_009497.2:g.757308T>C
NM_206933.4:c.13964T>CMANE SELECT
NP_996816.3:p.Leu4655Pro
NC_000001.10:g.215844483A>G

Protein change:

L4655P

Molecular consequence:

NM_206933.4:c.13964T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 36
Synonyms:: Deafness, autosomal dominant 36
Identifiers:: MONDO: MONDO:0011708; MedGen: C1847626; Orphanet: 90635; OMIM: 606705

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003844068	Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital	no assertion criteria provided	Uncertain significance (Mar 23, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003844068

Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital

no assertion criteria provided

Uncertain significance
(Mar 23, 2023)

germline

clinical testing

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 Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital, SCV003844068.1

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

Last Updated: May 27, 2023

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