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

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Dec 2, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000726248.9

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:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000343170Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Mar 31, 2017)
germlineclinical testing

Citation Link,

SCV001787272GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Jun 8, 2021)
germlineclinical testing

Citation Link,

SCV004677983Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Dec 2, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Eurofins Ntd Llc (ga), SCV000343170.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV001787272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV004677983.1

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

Last Updated: Mar 5, 2024