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NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 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:
RCV000670960.2

Allele description [Variation Report for NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)]

NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)

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.3493G>C (p.Val1165Leu)
HGVS:
  • NC_000001.11:g.216199945C>G
  • NG_009497.2:g.228504G>C
  • NM_007123.6:c.3493G>C
  • NM_206933.4:c.3493G>CMANE SELECT
  • NP_009054.6:p.Val1165Leu
  • NP_996816.3:p.Val1165Leu
  • NC_000001.10:g.216373287C>G
  • NG_009497.1:g.228452G>C
  • NM_206933.2:c.3493G>C
Protein change:
V1165L
Links:
dbSNP: rs727503734
NCBI 1000 Genomes Browser:
rs727503734
Molecular consequence:
  • NM_007123.6:c.3493G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3493G>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795887Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Nov 21, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000795887.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024