NM_194248.3(OTOF):c.4023+1G>A AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Nov 29, 2019)

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:
RCV000897451.3

Allele description [Variation Report for NM_194248.3(OTOF):c.4023+1G>A]

NM_194248.3(OTOF):c.4023+1G>A

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.4023+1G>A
HGVS:
  • NC_000002.12:g.26470592C>T
  • NG_009937.1:g.93107G>A
  • NM_001287489.2:c.4023+1G>A
  • NM_004802.4:c.1722+1G>A
  • NM_194248.3:c.4023+1G>AMANE SELECT
  • NM_194322.3:c.1953+1G>A
  • NM_194323.3:c.1722+1G>A
  • NC_000002.11:g.26693460C>T
  • NM_194248.2:c.4023+1G>A
  • c.4023+1G>A
Links:
dbSNP: rs186810296
NCBI 1000 Genomes Browser:
rs186810296
Molecular consequence:
  • NM_001287489.2:c.4023+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004802.4:c.1722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_194248.3:c.4023+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_194322.3:c.1953+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_194323.3:c.1722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001041596Invitaecriteria provided, single submitter
Benign
(Mar 30, 2018)
germlineclinical testing

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

SCV001825083GeneDxcriteria provided, single submitter
Likely benign
(Nov 29, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001041596.1

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

From GeneDx, SCV001825083.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 33095980, 31130284, 31980526, 31581539, 30096381, 30245029, 26818607, 25262649, 26434960, 21935370, 31095577)

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

Last Updated: Sep 24, 2021

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