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NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 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:
RCV000601443.4

Allele description [Variation Report for NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)]

NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)

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.1814A>G (p.Lys605Arg)
HGVS:
  • NC_000011.10:g.77172764A>G
  • NG_009086.2:g.49519A>G
  • NM_000260.4:c.1814A>GMANE SELECT
  • NM_001127180.2:c.1814A>G
  • NM_001369365.1:c.1781A>G
  • NP_000251.3:p.Lys605Arg
  • NP_001120652.1:p.Lys605Arg
  • NP_001356294.1:p.Lys594Arg
  • LRG_1420t1:c.1814A>G
  • LRG_1420:g.49519A>G
  • LRG_1420p1:p.Lys605Arg
  • NC_000011.9:g.76883810A>G
  • NG_009086.1:g.49501A>G
  • NM_000260.3:c.1814A>G
Protein change:
K594R
Links:
dbSNP: rs968552859
NCBI 1000 Genomes Browser:
rs968552859
Molecular consequence:
  • NM_000260.4:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000713304Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jun 20, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000713304.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Lys605Arg variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in (1/25142) of La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomAD.broad institute.org). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. Computational pre diction tools and conservation analysis do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Ly s605Arg variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024