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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 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:
RCV000627017.4

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:
Blindness
Synonyms:
Blindness (disorder)
Identifiers:
MONDO: MONDO:0001941; MedGen: C0456909; Human Phenotype Ontology: HP:0000618
Name:
Rod-cone dystrophy
Identifiers:
MedGen: C4551714; Human Phenotype Ontology: HP:0000510
Name:
Pigmentary retinopathy
Synonyms:
Rarefaction of retinal pigmentation; Pigmentary retinal deposits
Identifiers:
MedGen: C4551715; Human Phenotype Ontology: HP:0000580
Name:
Abnormal macular morphology
Identifiers:
MedGen: C4520679; Human Phenotype Ontology: HP:0001103
Name:
Retinal pigment epithelial atrophy
Identifiers:
MedGen: C1840457; Human Phenotype Ontology: HP:0007722

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747720Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2017) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747720.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024