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NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2024
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:
RCV004032715.1

Allele description [Variation Report for NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys)]

NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys)
HGVS:
  • NC_000002.12:g.26467397C>T
  • NG_009937.1:g.96302G>A
  • NM_001287489.2:c.4195G>A
  • NM_004802.4:c.1894G>A
  • NM_194248.3:c.4195G>AMANE SELECT
  • NM_194322.3:c.2125G>A
  • NM_194323.3:c.1894G>A
  • NP_001274418.1:p.Glu1399Lys
  • NP_004793.2:p.Glu632Lys
  • NP_919224.1:p.Glu1399Lys
  • NP_919303.1:p.Glu709Lys
  • NP_919304.1:p.Glu632Lys
  • NC_000002.11:g.26690265C>T
  • NC_000002.11:g.26690265C>T
  • NM_194248.2:c.4195G>A
Protein change:
E1399K
Links:
dbSNP: rs777285104
NCBI 1000 Genomes Browser:
rs777285104
Molecular consequence:
  • NM_001287489.2:c.4195G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004802.4:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.4195G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194322.3:c.2125G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194323.3:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004995884Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 23, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004995884.1

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

Description

The c.4195G>A (p.E1399K) alteration is located in exon 34 (coding exon 34) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 4195, causing the glutamic acid (E) at amino acid position 1399 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024