NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 7, 2014
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:: RCV000155332.12

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]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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D10Mit299 DNA Segment, Chr 10, Massachusetts Institute of Technology 299 [Mus mu...
D10Mit299 DNA Segment, Chr 10, Massachusetts Institute of Technology 299 [Mus musculus]
Gene ID:62997

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D10Mit299 AND (alive[prop]) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000205018	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Nov 7, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17085681, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000205018

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Nov 7, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	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

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000205018.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The p.Asp778Tyr variant in USH2A has been reported in 1 Spanish individual with Usher syndrome who also carried a known pathogenic variant (Aller 2006). This variant has been identified in 0.05% (2/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs142898216); howev er this frequency is not high enough to rule out a pathogenic role. Computationa l prediction tools suggest that the p.Asp778Tyr variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical signi ficance of the p.Asp778Tyr variant is uncertain.

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

Last Updated: Nov 3, 2024

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