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NM_015205.3(ATP11A):c.914T>A (p.Ile305Asn) AND Hearing loss, autosomal dominant 84

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 2023
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:
RCV003988607.1

Allele description [Variation Report for NM_015205.3(ATP11A):c.914T>A (p.Ile305Asn)]

NM_015205.3(ATP11A):c.914T>A (p.Ile305Asn)

Gene:
ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_015205.3(ATP11A):c.914T>A (p.Ile305Asn)
HGVS:
  • NC_000013.11:g.112825471T>A
  • NM_001405661.1:c.914T>A
  • NM_001405662.1:c.914T>A
  • NM_001405663.1:c.914T>A
  • NM_015205.3:c.914T>AMANE SELECT
  • NM_032189.4:c.914T>A
  • NP_001392590.1:p.Ile305Asn
  • NP_001392591.1:p.Ile305Asn
  • NP_001392592.1:p.Ile305Asn
  • NP_056020.2:p.Ile305Asn
  • NP_115565.3:p.Ile305Asn
  • NC_000013.10:g.113479785T>A
Protein change:
I305N
Molecular consequence:
  • NM_001405661.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001405662.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001405663.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015205.3:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032189.4:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hearing loss, autosomal dominant 84
Synonyms:
DEAFNESS, AUTOSOMAL DOMINANT 84
Identifiers:
MONDO: MONDO:0030724; MedGen: C5676952; OMIM: 619810

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004803188Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 11, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.

Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, et al.

Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12.

PubMed [citation]
PMID:
35278131
PMCID:
PMC9035003

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV004803188.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024