NM_206933.4(USH2A):c.10836C>A (p.Val3612=) AND not specified

Clinical significance:Benign (Last evaluated: Sep 15, 2014)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000041680.3

Allele description [Variation Report for NM_206933.4(USH2A):c.10836C>A (p.Val3612=)]

NM_206933.4(USH2A):c.10836C>A (p.Val3612=)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.10836C>A (p.Val3612=)
HGVS:
  • NC_000001.11:g.215779946G>T
  • NG_009497.1:g.648451C>A
  • NG_009497.2:g.648503C>A
  • NM_206933.4:c.10836C>AMANE SELECT
  • NP_996816.3:p.Val3612=
  • NC_000001.10:g.215953288G>T
  • NM_206933.2:c.10836C>A
  • NM_206933.3:c.10836C>A
  • c.10836C>A
  • p.Val3612Val
Links:
dbSNP: rs61276761
NCBI 1000 Genomes Browser:
rs61276761
Molecular consequence:
  • NM_206933.4:c.10836C>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
49

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065376Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Dec 14, 2010)
germlineclinical testing

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

SCV000231377EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Sep 15, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided4949not providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000065376.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided49not providednot providedclinical testing PubMed (1)

Description

Val3612Val in exon 55 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and is listed in dbSNP (rs61276761, 5/50 Black chromosomes).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided49not provided49not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000231377.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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