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NM_000260.4(MYO7A):c.1798-1G>T AND Autosomal recessive nonsyndromic hearing loss 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 26, 2019
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:
RCV000770847.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1798-1G>T]

NM_000260.4(MYO7A):c.1798-1G>T

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.1798-1G>T
HGVS:
  • NC_000011.10:g.77172747G>T
  • NG_009086.2:g.49502G>T
  • NM_000260.4:c.1798-1G>TMANE SELECT
  • NM_001127180.2:c.1798-1G>T
  • NM_001369365.1:c.1765-1G>T
  • LRG_1420t1:c.1798-1G>T
  • LRG_1420:g.49502G>T
  • NC_000011.9:g.76883793G>T
Links:
dbSNP: rs1555076948
NCBI 1000 Genomes Browser:
rs1555076948
Molecular consequence:
  • NM_000260.4:c.1798-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001127180.2:c.1798-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369365.1:c.1765-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 2
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; Deafness, autosomal recessive 2
Identifiers:
MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000902348Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
no assertion criteria provided
Likely pathogenic
(Feb 26, 2019) 		inheritedcase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providedyescase-control

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV000902348.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Jun 10, 2023