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NM_016239.4(MYO15A):c.4596+1G>A AND Autosomal recessive nonsyndromic hearing loss 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2023
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:
RCV003227459.1

Allele description [Variation Report for NM_016239.4(MYO15A):c.4596+1G>A]

NM_016239.4(MYO15A):c.4596+1G>A

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.4596+1G>A
HGVS:
  • NC_000017.11:g.18135825G>A
  • NG_011634.2:g.32120G>A
  • NG_135780.1:g.809G>A
  • NM_016239.4:c.4596+1G>AMANE SELECT
  • NC_000017.10:g.18039139G>A
Molecular consequence:
  • NM_016239.4:c.4596+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
2

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
SCV003924024Payam Genetics Center, General Welfare Department of North Khorasan Province
no assertion criteria provided
Pathogenic
(Mar 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Iraniangermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Payam Genetics Center, General Welfare Department of North Khorasan Province, SCV003924024.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Iranian2not providednot providedclinical testingnot provided

Description

This variant c.4596+1G>T on the MYO15A was not found in 1000G,ExAC,GnomAD exome genome and Iranom. At this family two sisters with deafness have been detected whit homozygous mutation on yours MYO15A genes and parents are first cousin, therefore this variant classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Feb 20, 2024