NM_206933.4(USH2A):c.949C>A (p.Arg317=) AND Retinitis pigmentosa 39

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Nov 4, 2023
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:: RCV000984234.4

Allele description [Variation Report for NM_206933.4(USH2A):c.949C>A (p.Arg317=)]

NM_206933.4(USH2A):c.949C>A (p.Arg317=)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.949C>A (p.Arg317=)

Other names:

USH2A, 949C-A, ARG317ARG; R317R

HGVS:

NC_000001.11:g.216325499G>T
NG_009497.2:g.102950C>A
NM_007123.6:c.949C>A
NM_206933.4:c.949C>AMANE SELECT
NP_009054.6:p.Arg317=
NP_996816.3:p.Arg317=
NC_000001.10:g.216498841G>T
NG_009497.1:g.102898C>A
NM_206933.2:c.949C>A
c.949C>A
p.Arg317Arg

Protein change:

ARG317ARG

Links:

OMIM: 608400.0008; dbSNP: rs111033272

NCBI 1000 Genomes Browser:

rs111033272

Molecular consequence:

NM_007123.6:c.949C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_206933.4:c.949C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Betta splendens genome assembly, chromosome: 22
Betta splendens genome assembly, chromosome: 22
gi|2440437215|emb|LR132012.3|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001132313	Counsyl	no assertion criteria provided	Likely pathogenic (Jan 24, 2019)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 15015129, 24498627, 27460420, 18273898, 15325563, 25575603, 24944099, 26927203, 15241801
SCV004182925	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]
SCV004208204	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 8, 2023)	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

SCV001132313

Counsyl

no assertion criteria provided

Likely pathogenic
(Jan 24, 2019)

unknown

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

SCV004182925

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]

SCV004208204

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 8, 2023)

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	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

Citations

PubMed

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H.

Am J Hum Genet. 2004 Apr;74(4):738-44. Epub 2004 Mar 10.

PubMed [citation]

PMID:: 15015129
PMCID:: PMC1181950

Experience of targeted Usher exome sequencing as a clinical test.

Besnard T, García-García G, Baux D, Vaché C, Faugère V, Larrieu L, Léonard S, Millan JM, Malcolm S, Claustres M, Roux AF.

Mol Genet Genomic Med. 2014 Jan;2(1):30-43. doi: 10.1002/mgg3.25. Epub 2013 Jul 10.

PubMed [citation]

PMID:: 24498627
PMCID:: PMC3907913

See all PubMed Citations (10)

Details of each submission

From Counsyl, SCV001132313.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	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 Genome-Nilou Lab, SCV004182925.1

#	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

From Baylor Genetics, SCV004208204.1

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

Last Updated: May 12, 2024

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