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NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 4, 2011
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:
RCV000038281.5

Allele description [Variation Report for NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)]

NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)

Gene:
MYO6:myosin VI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.1
Genomic location:
Preferred name:
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)
HGVS:
  • NC_000006.12:g.75848483G>A
  • NG_009934.2:g.104291G>A
  • NM_001300899.2:c.1030G>A
  • NM_001368136.1:c.1030G>A
  • NM_001368137.1:c.1030G>A
  • NM_001368138.1:c.1015G>A
  • NM_001368865.1:c.1030G>A
  • NM_001368866.1:c.1030G>A
  • NM_004999.4:c.1030G>AMANE SELECT
  • NP_001287828.1:p.Val344Ile
  • NP_001355065.1:p.Val344Ile
  • NP_001355066.1:p.Val344Ile
  • NP_001355067.1:p.Val339Ile
  • NP_001355794.1:p.Val344Ile
  • NP_001355795.1:p.Val344Ile
  • NP_004990.3:p.Val344Ile
  • LRG_438t1:c.1030G>A
  • LRG_438:g.104291G>A
  • LRG_438p1:p.Val344Ile
  • NC_000006.11:g.76558200G>A
  • NG_009934.1:g.104292G>A
  • NM_004999.3:c.1030G>A
  • NR_160538.1:n.1262G>A
  • c.1030G>A
Protein change:
V339I
Links:
dbSNP: rs199798449
NCBI 1000 Genomes Browser:
rs199798449
Molecular consequence:
  • NM_001300899.2:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368136.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368137.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368138.1:c.1015G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368865.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368866.1:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004999.4:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160538.1:n.1262G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000061950Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Oct 4, 2011)
germlineclinical testing

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

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, SCV000061950.6

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

Description

The Val344Ile variant in MYO6: This variant is not expected to have clinical sig nificance because the Val344 residue is not fully conserved (isoleucine is obser ved in C. elegans) and computational analyses (biochemical amino acid properties , SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein. Fu rthermore, it was found in a patient with another cause of hearing loss.

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

Last Updated: Mar 5, 2024