NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) AND none provided

Clinical significance:Benign (Last evaluated: Jan 29, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001286414.2

Allele description [Variation Report for NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)]

NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)
HGVS:
  • NC_000002.12:g.26474612C>T
  • NG_009937.1:g.89087G>A
  • NM_001287489.2:c.3189G>A
  • NM_004802.4:c.948G>A
  • NM_194248.3:c.3189G>AMANE SELECT
  • NM_194322.3:c.1119G>A
  • NM_194323.3:c.948G>A
  • NP_001274418.1:p.Ala1063=
  • NP_004793.2:p.Ala316=
  • NP_919224.1:p.Ala1063=
  • NP_919303.1:p.Ala373=
  • NP_919304.1:p.Ala316=
  • NC_000002.11:g.26697480C>T
  • NM_194248.1:c.3189G>A
  • NM_194248.2:c.3189G>A
  • c.3189G>A
  • p.Ala1063Ala
Links:
dbSNP: rs80356573
NCBI 1000 Genomes Browser:
rs80356573
Molecular consequence:
  • NM_001287489.2:c.3189G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004802.4:c.948G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_194248.3:c.3189G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_194322.3:c.1119G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_194323.3:c.948G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001472979ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Jan 29, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472979.1

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

Last Updated: Nov 11, 2021

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