NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs) AND Usher syndrome type 2A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 17, 2022
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:: RCV002309065.2

Allele description [Variation Report for NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)]

NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)

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.3892_3899del (p.Gln1298fs)

HGVS:

NC_000001.11:g.216198497_216198504del
NG_009497.2:g.229945_229952del
NM_007123.6:c.3892_3899del
NM_206933.4:c.3892_3899delMANE SELECT
NP_009054.6:p.Gln1298fs
NP_996816.3:p.Gln1298fs
NC_000001.10:g.216371839_216371846del

Protein change:

Q1298fs

Molecular consequence:

NM_007123.6:c.3892_3899del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_206933.4:c.3892_3899del - 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

Recent activity

Clear Turn Off Turn On

esv20591 (2)
dbVar
cabp4 calcium binding protein 4 [Danio rerio]
cabp4 calcium binding protein 4 [Danio rerio]
Gene ID:797905

Gene
797905[uid] AND (alive[prop]) (1)
Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002602874	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Mar 17, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602874

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(Mar 17, 2022)

unknown

clinical testing

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

Details of each submission

From Myriad Genetics, Inc., SCV002602874.2

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

Description

NM_206933.2(USH2A):c.3892_3899del8(Q1298Wfs*14) is expected to be pathogenic in the context of USH2A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in USH2A, a gene where loss-of-function variants are known to be pathogenic. 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: Dec 24, 2022

ClinVar

Relating variation to medicine