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NM_016239.4(MYO15A):c.6956+9C>G AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 22, 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:
RCV003560840.1

Allele description [Variation Report for NM_016239.4(MYO15A):c.6956+9C>G]

NM_016239.4(MYO15A):c.6956+9C>G

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.6956+9C>G
HGVS:
  • NC_000017.11:g.18148961C>G
  • NG_011634.2:g.45256C>G
  • NM_016239.4:c.6956+9C>GMANE SELECT
  • NC_000017.10:g.18052275C>G
Links:
dbSNP: rs1482709090
NCBI 1000 Genomes Browser:
rs1482709090
Molecular consequence:
  • NM_016239.4:c.6956+9C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004298158Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 22, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Yang T, Wei X, Chai Y, Li L, Wu H.

Orphanet J Rare Dis. 2013 Jun 14;8:85. doi: 10.1186/1750-1172-8-85.

PubMed [citation]
PMID:
23767834
PMCID:
PMC3703291

Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.

Fu Y, Huang S, Gao X, Han M, Wang G, Kang D, Yuan Y, Dai P.

BMC Med Genomics. 2022 Mar 26;15(1):71. doi: 10.1186/s12920-022-01201-3.

PubMed [citation]
PMID:
35346193
PMCID:
PMC8962197
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV004298158.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change falls in intron 33 of the MYO15A gene. It does not directly change the encoded amino acid sequence of the MYO15A protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has been observed in individuals with deafness (PMID: 23767834, 35346193, 35982127). ClinVar contains an entry for this variant (Variation ID: 1301952). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 35982127). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 20, 2024