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NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile) AND Autosomal recessive nonsyndromic hearing loss 3

Germline classification:
Uncertain significance (1 submission)
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:
RCV002225015.1

Allele description [Variation Report for NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile)]

NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile)

Gene:
MYO15A:myosin XVA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile)
HGVS:
  • NC_000017.11:g.18148135T>A
  • NG_011634.2:g.44430T>A
  • NM_016239.4:c.6616T>AMANE SELECT
  • NP_057323.3:p.Leu2206Ile
  • NC_000017.10:g.18051449T>A
Protein change:
L2206I
Links:
dbSNP: rs777487622
NCBI 1000 Genomes Browser:
rs777487622
Molecular consequence:
  • NM_016239.4:c.6616T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 3
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3; Deafness, autosomal recessive 3
Identifiers:
MONDO: MONDO:0010860; MedGen: C1838263; Orphanet: 90636; OMIM: 600316

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001984932Molecular Diagnosis Center for Deafness
criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)		Uncertain significancematernalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknown11not providednot providedyesclinical testing

Citations

PubMed

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 Molecular Diagnosis Center for Deafness, SCV001984932.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2023