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NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) AND Rare genetic deafness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 13, 2009
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:
RCV000036069.5

Allele description [Variation Report for NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs)]

NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs)
HGVS:
  • NC_000011.10:g.77174772_77174773insAG
  • NG_009086.2:g.51527_51528insAG
  • NM_000260.4:c.1952_1953insAGMANE SELECT
  • NM_001127180.2:c.1952_1953insAG
  • NM_001369365.1:c.1919_1920insAG
  • NP_000251.3:p.Cys652fs
  • NP_001120652.1:p.Cys652fs
  • NP_001356294.1:p.Cys641fs
  • LRG_1420t1:c.1952_1953insAG
  • LRG_1420:g.51527_51528insAG
  • LRG_1420p1:p.Cys652fs
  • NC_000011.9:g.76885818_76885819insAG
  • NG_009086.1:g.51509_51510insAG
  • NM_000260.3:c.1952_1953insAG
  • c.1952_1953insAG
  • p.Cys652fs
Protein change:
C641fs
Links:
dbSNP: rs111033510
NCBI 1000 Genomes Browser:
rs111033510
Molecular consequence:
  • NM_000260.4:c.1952_1953insAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127180.2:c.1952_1953insAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369365.1:c.1919_1920insAG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000059721Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Dec 13, 2009) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided41not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059721.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided1not provided

Last Updated: Dec 24, 2023