NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) AND Retinitis pigmentosa

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 28, 2017
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:: RCV001003275.5

Allele description [Variation Report for NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)]

NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)

HGVS:

NC_000001.11:g.216207413G>A
NG_009497.2:g.221036C>T
NM_007123.6:c.3176C>T
NM_206933.4:c.3176C>TMANE SELECT
NP_009054.5:p.Pro1059Leu
NP_009054.6:p.Pro1059Leu
NP_996816.3:p.Pro1059Leu
NC_000001.10:g.216380755G>A
NG_009497.1:g.220984C>T
NM_007123.5:c.3176C>T
NM_206933.2:c.3176C>T

Protein change:

P1059L

Links:

dbSNP: rs547581739

NCBI 1000 Genomes Browser:

rs547581739

Molecular consequence:

NM_007123.6:c.3176C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_206933.4:c.3176C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa (RP)
Synonyms:: Tapetoretinal degeneration
Identifiers:: MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

Recent activity

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PREDICTED: Cucurbita maxima transcription factor MYB52-like (LOC111495269), mRNA
PREDICTED: Cucurbita maxima transcription factor MYB52-like (LOC111495269), mRNA
gi|1281033084|ref|XM_023145235.1|

Nucleotide
Klk1b3 AND (alive[prop]) (2)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001161358	Sharon lab, Hadassah-Hebrew University Medical Center	no assertion criteria provided	Likely pathogenic (Jun 23, 2019)	inherited	research
SCV001257465	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20507924, 15325563 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001161358

Sharon lab, Hadassah-Hebrew University Medical Center

no assertion criteria provided

Likely pathogenic
(Jun 23, 2019)

inherited

research

SCV001257465

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

germline

clinical testing

PubMed (2)
[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	inherited	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL.

J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27.

PubMed [citation]

PMID:: 20507924
PMCID:: PMC3070405

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

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161358.1

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

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

From Illumina Laboratory Services, Illumina, SCV001257465.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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

Last Updated: Nov 10, 2024

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