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NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 15, 2018
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:
RCV000214515.7

Allele description [Variation Report for NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)]

NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)

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.3529C>T (p.Arg1177Cys)
HGVS:
  • NC_000006.12:g.75914152C>T
  • NG_009934.2:g.169960C>T
  • NM_001300899.2:c.3460C>T
  • NM_001368136.1:c.3433C>T
  • NM_001368137.1:c.3490C>T
  • NM_001368138.1:c.3445C>T
  • NM_001368865.1:c.3556C>T
  • NM_001368866.1:c.3529C>T
  • NM_004999.4:c.3529C>TMANE SELECT
  • NP_001287828.1:p.Arg1154Cys
  • NP_001355065.1:p.Arg1145Cys
  • NP_001355066.1:p.Arg1164Cys
  • NP_001355067.1:p.Arg1149Cys
  • NP_001355794.1:p.Arg1186Cys
  • NP_001355795.1:p.Arg1177Cys
  • NP_004990.3:p.Arg1177Cys
  • LRG_438t1:c.3529C>T
  • LRG_438:g.169960C>T
  • LRG_438p1:p.Arg1177Cys
  • NC_000006.11:g.76623869C>T
  • NG_009934.1:g.169961C>T
  • NM_004999.3:c.3529C>T
  • NR_160538.1:n.3758C>T
Protein change:
R1145C
Links:
dbSNP: rs146419641
NCBI 1000 Genomes Browser:
rs146419641
Molecular consequence:
  • NM_001300899.2:c.3460C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368136.1:c.3433C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368137.1:c.3490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368138.1:c.3445C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368865.1:c.3556C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368866.1:c.3529C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004999.4:c.3529C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160538.1:n.3758C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

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
SCV000272142Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Uncertain significance
(Feb 15, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, SCV000272142.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The p.Arg1177Cys variant in MYO6 has been previously reported by our laboratory in the heterozygous state in 1 individual with hearing loss. This variant has be en identified in 0.18% (44/24026) of African chromosomes by the Genome Aggregati on Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs146419641) and i s reported in ClinVar (Variation ID: 228995). Computational prediction tools and conservation analysis suggest that the p.Arg1177Cys variant may impact the prot ein, though this information is not predictive enough to determine pathogenicity . In summary, the clinical significance of the p.Arg1177Cys variant is uncertain . ACMG/AMP Criteria applied: PP3.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Mar 5, 2024