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NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2017
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:
RCV000665188.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)]

NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)

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.2122A>G (p.Met708Val)
HGVS:
  • NC_000011.10:g.77175399A>G
  • NG_009086.2:g.52154A>G
  • NM_000260.4:c.2122A>GMANE SELECT
  • NM_001127180.2:c.2122A>G
  • NM_001369365.1:c.2089A>G
  • NP_000251.3:p.Met708Val
  • NP_001120652.1:p.Met708Val
  • NP_001356294.1:p.Met697Val
  • LRG_1420t1:c.2122A>G
  • LRG_1420:g.52154A>G
  • LRG_1420p1:p.Met708Val
  • NC_000011.9:g.76886445A>G
  • NG_009086.1:g.52136A>G
  • NM_000260.3:c.2122A>G
  • c.2122A>G
Protein change:
M697V
Links:
dbSNP: rs397516293
NCBI 1000 Genomes Browser:
rs397516293
Molecular consequence:
  • NM_000260.4:c.2122A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.2122A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]

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
Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000789262Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jan 20, 2017) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000789262.1

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

Last Updated: Oct 20, 2024