U.S. flag

An official website of the United States government

NM_004999.4(MYO6):c.1656G>A (p.Lys552=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 15, 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:
RCV000038287.6

Allele description [Variation Report for NM_004999.4(MYO6):c.1656G>A (p.Lys552=)]

NM_004999.4(MYO6):c.1656G>A (p.Lys552=)

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.1656G>A (p.Lys552=)
HGVS:
  • NC_000006.12:g.75862705G>A
  • NG_009934.2:g.118513G>A
  • NM_001300899.2:c.1656G>A
  • NM_001368136.1:c.1656G>A
  • NM_001368137.1:c.1656G>A
  • NM_001368138.1:c.1641G>A
  • NM_001368865.1:c.1656G>A
  • NM_001368866.1:c.1656G>A
  • NM_004999.4:c.1656G>AMANE SELECT
  • NP_001287828.1:p.Lys552=
  • NP_001355065.1:p.Lys552=
  • NP_001355066.1:p.Lys552=
  • NP_001355067.1:p.Lys547=
  • NP_001355794.1:p.Lys552=
  • NP_001355795.1:p.Lys552=
  • NP_004990.3:p.Lys552=
  • LRG_438t1:c.1656G>A
  • LRG_438:g.118513G>A
  • LRG_438p1:p.Lys552=
  • NC_000006.11:g.76572422G>A
  • NG_009934.1:g.118514G>A
  • NM_004999.3:c.1656G>A
  • NR_160538.1:n.1888G>A
  • c.1656G>A
  • p.Lys552Lys
Links:
dbSNP: rs111033431
NCBI 1000 Genomes Browser:
rs111033431
Molecular consequence:
  • NR_160538.1:n.1888G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001300899.2:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368136.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368137.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368138.1:c.1641G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368865.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368866.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004999.4:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
6

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000061956Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Dec 15, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided66not 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, SCV000061956.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (1)

Description

Lys552Lys in exon 16 of MYO6: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 1.3% (50/3738) of chromoso mes from a broad African American population and 0.03% (2/7020) from a broad Eur opean American population (dbSNP rs111033431)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided6not provided6not provided

Last Updated: Jul 15, 2024