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NM_015205.3(ATP11A):c.3322_3327+2dup AND Autosomal dominant nonsyndromic hearing loss 33

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001789843.1

Allele description [Variation Report for NM_015205.3(ATP11A):c.3322_3327+2dup]

NM_015205.3(ATP11A):c.3322_3327+2dup

Gene:
ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_015205.3(ATP11A):c.3322_3327+2dup
HGVS:
  • NC_000013.11:g.112875936_112875943dup
  • NM_015205.3:c.3322_3327+2dupMANE SELECT
  • NM_032189.4:c.3322_3327+2dup
  • NC_000013.10:g.113530250_113530257dup
  • NM_032189.3:c.3322_3327+2dupGTCCAGGT
  • NM_032189.4:c.3322_3327+2dupGTCCAGGT
Links:
OMIM: 605868.0002; dbSNP: rs2140433062
NCBI 1000 Genomes Browser:
rs2140433062
Molecular consequence:
  • NM_015205.3:c.3322_3327+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_032189.4:c.3322_3327+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 33
Synonyms:
Deafness, autosomal dominant 33
Identifiers:
MONDO: MONDO:0013632; MedGen: C3887930; Orphanet: 90635; OMIM: 614211

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002032280Laboratory of Prof. Karen Avraham, Tel Aviv University
no assertion criteria provided
Pathogenic
(Dec 8, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Bukharian Jewsgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

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

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV002032280.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Bukharian Jewsnot providednot providednot providedresearch PubMed (2)

Description

Jewish Bukharian origin; childhood-teenage onset; starting with high-tone HL, progressive

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

Last Updated: Dec 24, 2023