NM_206933.4(USH2A):c.8682-9A>G AND Retinitis pigmentosa 39

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Feb 17, 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:: RCV000666303.5

Allele description [Variation Report for NM_206933.4(USH2A):c.8682-9A>G]

NM_206933.4(USH2A):c.8682-9A>G

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.8682-9A>G

HGVS:

NC_000001.11:g.215867179T>C
NG_009497.2:g.561270A>G
NM_206933.4:c.8682-9A>GMANE SELECT
NC_000001.10:g.216040521T>C
NG_009497.1:g.561218A>G
NM_206933.2:c.8682-9A>G

Links:

dbSNP: rs372347027

NCBI 1000 Genomes Browser:

rs372347027

Molecular consequence:

NM_206933.4:c.8682-9A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Retinitis pigmentosa 39 (RP39)
Identifiers:: MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

Recent activity

Clear Turn Off Turn On

Vernonia gigantea (27)
Nucleotide

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
SCV000790572	Counsyl	no assertion criteria provided	Likely pathogenic (Apr 4, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27318125, 25425308, 23591405
SCV001573686	Ocular Genomics Institute, Massachusetts Eye and Ear	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 8, 2021)	germline	research	PubMed (6) [See all records that cite these PMIDs] 27318125, 25425308, 23591405, 28944237, 18273898, 25741868
SCV004208180	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 17, 2024)	unknown	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

SCV000790572

Counsyl

no assertion criteria provided

Likely pathogenic
(Apr 4, 2017)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001573686

Ocular Genomics Institute, Massachusetts Eye and Ear

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 8, 2021)

germline

research

PubMed (6)
[See all records that cite these PMIDs]

SCV004208180

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 17, 2024)

unknown

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	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Hartel BP, Löfgren M, Huygen PL, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi AM, van Wijk E, Tranebjærg L, Kremer H, Kimberling WJ, Cremers CW, Möller C, Pennings RJ.

Hear Res. 2016 Sep;339:60-8. doi: 10.1016/j.heares.2016.06.008. Epub 2016 Jun 16.

PubMed [citation]

PMID:: 27318125

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

Zein WM, Falsini B, Tsilou ET, Turriff AE, Schultz JM, Friedman TB, Brewer CC, Zalewski CK, King KA, Muskett JA, Rehman AU, Morell RJ, Griffith AJ, Sieving PA.

Invest Ophthalmol Vis Sci. 2014 Nov 25;56(1):107-14. doi: 10.1167/iovs.14-15355.

PubMed [citation]

PMID:: 25425308
PMCID:: PMC4288141

See all PubMed Citations (6)

Details of each submission

From Counsyl, SCV000790572.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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 Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573686.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (6)

Description

The USH2A c.8682-9A>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PM3, PP3, PP4. Based on this evidence we have classified this variant as Likely Pathogenic.

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

From Baylor Genetics, SCV004208180.2

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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine