NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) AND Usher syndrome type 2A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 3, 2021
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:: RCV001810429.11

Allele description [Variation Report for NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)]

NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)

Genes:

LOC122152296:Sharpr-MPRA regulatory region 8762 [Gene]
USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)

HGVS:

NC_000001.11:g.216247062C>A
NG_009497.2:g.181387G>T
NM_007123.6:c.2332G>T
NM_206933.4:c.2332G>TMANE SELECT
NP_009054.6:p.Asp778Tyr
NP_996816.3:p.Asp778Tyr
NC_000001.10:g.216420404C>A
NG_009497.1:g.181335G>T
NM_206933.2:c.2332G>T

Protein change:

D778Y

Links:

dbSNP: rs142898216

NCBI 1000 Genomes Browser:

rs142898216

Molecular consequence:

NM_007123.6:c.2332G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_206933.4:c.2332G>T - missense variant - [Sequence Ontology: SO:0001583]

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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Taxonomy Links for GEO Profiles (Select 125847060) (1)
Taxonomy
L-lactate dehydrogenase [Listeria monocytogenes EGD-e]
L-lactate dehydrogenase [Listeria monocytogenes EGD-e]
gi|16803097|ref|NP_464582.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002060086	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Uncertain significance (Nov 3, 2021)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17085681, 26969326, 25649381, 31736247 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002060086

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Uncertain significance
(Nov 3, 2021)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM.

J Med Genet. 2006 Nov;43(11):e55.

PubMed [citation]

PMID:: 17085681
PMCID:: PMC2563181

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH.

Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.

PubMed [citation]

PMID:: 26969326
PMCID:: PMC4796320

See all PubMed Citations (4)

Details of each submission

From Myriad Genetics, Inc., SCV002060086.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

NM_206933.2(USH2A):c.2332G>T(D778Y) is a missense variant classified as a variant of uncertain significance in the context of USH2A-related disorders. D778Y has been observed in cases with relevant disease (PMID: 31736247, 25649381, 17085681, 26969326). Functional assessments of this variant are not available in the literature. D778Y has been observed in population frequency databases (gnomAD: AFR 0.05%). In summary, there is insufficient evidence to classify NM_206933.2(USH2A):c.2332G>T(D778Y) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Nov 3, 2024

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