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NM_000260.4(MYO7A):c.2165G>T (p.Gly722Val) AND Autosomal dominant nonsyndromic hearing loss 11

Germline classification:
Uncertain significance (1 submission)
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:
RCV003881673.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.2165G>T (p.Gly722Val)]

NM_000260.4(MYO7A):c.2165G>T (p.Gly722Val)

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.2165G>T (p.Gly722Val)
HGVS:
  • NC_000011.10:g.77175442G>T
  • NG_009086.2:g.52197G>T
  • NM_000260.4:c.2165G>TMANE SELECT
  • NM_001127180.2:c.2165G>T
  • NM_001369365.1:c.2132G>T
  • NP_000251.3:p.Gly722Val
  • NP_001120652.1:p.Gly722Val
  • NP_001356294.1:p.Gly711Val
  • LRG_1420t1:c.2165G>T
  • LRG_1420:g.52197G>T
  • LRG_1420p1:p.Gly722Val
  • NC_000011.9:g.76886488G>T
Protein change:
G711V
Molecular consequence:
  • NM_000260.4:c.2165G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.2165G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.2132G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 11
Synonyms:
Deafness, autosomal dominant 11
Identifiers:
MONDO: MONDO:0011032; MedGen: C1832475; Orphanet: 90635; OMIM: 601317

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004697333Institute of Human Genetics, University of Wuerzburg
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV004697333.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024