NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) AND Usher syndrome type 2A

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Nov 4, 2023
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:: RCV000984318.3

Allele description [Variation Report for NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)]

NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)

Genes:

USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)

Other names:

p.Gln1063Serfs*15

HGVS:

NC_000001.10:g.216380743_216380744del
NC_000001.11:g.216207402_216207403del
NG_009497.2:g.221047_221048del
NM_007123.6:c.3187_3188del
NM_206933.4:c.3187_3188delMANE SELECT
NP_009054.6:p.Gln1063fs
NP_996816.3:p.Gln1063fs
NC_000001.10:g.216380743_216380744del
NC_000001.10:g.216380743_216380744delTG
NC_000001.10:g.216380744_216380745del
NC_000001.10:g.216380744_216380745del
NG_009497.1:g.220995_220996del
NM_206933.2:c.3187_3188del
NM_206933.2:c.3187_3188delCA
NM_206933.3:c.3187_3188delCA
p.Gln1063SerfsX15

Protein change:

Q1063fs

Links:

dbSNP: rs886039450

NCBI 1000 Genomes Browser:

rs886039450

Molecular consequence:

NM_007123.6:c.3187_3188del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_206933.4:c.3187_3188del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001132503	Counsyl	no assertion criteria provided	Pathogenic (May 18, 2018)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 22135276, 15325563, 19881469, 25472526
SCV001452242	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing
SCV004182366	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]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001132503

Counsyl

no assertion criteria provided

Pathogenic
(May 18, 2018)

unknown

clinical testing

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

SCV001452242

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

SCV004182366

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]

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M.

J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1.

PubMed [citation]

PMID:: 22135276
PMCID:: PMC3678402

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP.

Exp Eye Res. 2004 Aug;79(2):167-73.

PubMed [citation]

PMID:: 15325563

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV001132503.1

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

#	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

From Natera, Inc., SCV001452242.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV004182366.1

#	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

Last Updated: Sep 29, 2024

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