NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 21, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001221094.1

Allele description [Variation Report for NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)]

NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
HGVS:
  • NC_000001.11:g.215634523G>C
  • NG_009497.1:g.793874C>G
  • NG_009497.2:g.793926C>G
  • NM_206933.4:c.15233C>GMANE SELECT
  • NP_996816.3:p.Pro5078Arg
  • NC_000001.10:g.215807865G>C
  • NM_206933.2:c.15233C>G
Protein change:
P5078R
Links:
dbSNP: rs527236122
NCBI 1000 Genomes Browser:
rs527236122
Molecular consequence:
  • NM_206933.4:c.15233C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001393118Invitaecriteria provided, single submitter
Uncertain significance
(Oct 21, 2019)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio S, Hattori M, Usami S, Smith RJH.

Clin Genet. 2016 Apr;89(4):466-472. doi: 10.1111/cge.12677. Epub 2015 Oct 6.

PubMed [citation]
PMID:
26346818
PMCID:
PMC4783301

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M, Naito T, Nishio SY, Kamatani N, Usami S.

PLoS One. 2013;8(8):e71381. doi: 10.1371/journal.pone.0071381.

PubMed [citation]
PMID:
23967202
PMCID:
PMC3742761
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001393118.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces proline with arginine at codon 5078 of the USH2A protein (p.Pro5078Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs527236122, ExAC 0.1%). This variant has been observed in an individual with retinitis pigmentosa and several individuals with non-syndromic hearing loss (PMID: 25324289, 23967202, 26346818). ClinVar contains an entry for this variant (Variation ID: 143177). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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