NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) AND Usher syndrome type 2A

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 18, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003450780.2

Allele description [Variation Report for NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)]

NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)

Other names:

NM_206933.2:c.14031dupA; p.Ala4678SerfsX5

HGVS:

NC_000001.11:g.215671074dup
NG_009497.2:g.757375dup
NM_206933.4:c.14031dupMANE SELECT
NP_996816.3:p.Ala4678fs
NC_000001.10:g.215844416dup
NG_009497.1:g.757323dup
NM_206933.2:c.14031_14032insA
NM_206933.2:c.14031dup
c.14031_14032insA

Protein change:

A4678fs

Links:

dbSNP: rs397517988

Condition(s)

Name:: Usher syndrome type 2A
Synonyms:: USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:: MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004183107	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV007534266	Natera, Inc.	criteria provided, single submitter (Natera Variant Classification Schema (03/2026))	Pathogenic (Aug 18, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004183107

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 4, 2023)

germline

clinical testing

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

SCV007534266

Natera, Inc.

criteria provided, single submitter

(Natera Variant Classification Schema (03/2026))

Pathogenic
(Aug 18, 2024)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

Reddy R, Fahiminiya S, El Zir E, Mansour A, Megarbane A, Majewski J, Slim R.

PLoS One. 2014;9(9):e107326. doi: 10.1371/journal.pone.0107326.

PubMed [citation]

PMID:: 25211151
PMCID:: PMC4161397

Details of each submission

From Genome-Nilou Lab, SCV004183107.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV007534266.1

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

Description

The c.14031dup variant in USH2A is a frameshift variant predicted to shift the reading frame beginning at codon 4678 and leads to a stop codon 5 codons downstream. This variant is expected to result in nonsense mediated decay, truncation, or a dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). This variant has been observed in one or more individuals affected with the associated recessive disease, as either homozygous or compound heterozygous with a second variant (PMID: 25211151). Given the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Apr 12, 2026

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