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NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Jun 28, 2024
Review status:
no classifications from unflagged records
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:
RCV000078436.16

Allele description [Variation Report for NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)]

NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)

Gene:
MTM1:myotubularin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
HGVS:
  • NC_000023.11:g.150645692T>C
  • NG_008199.1:g.82119T>C
  • NM_000252.3:c.688T>CMANE SELECT
  • NM_001376906.1:c.688T>C
  • NM_001376907.1:c.577T>C
  • NM_001376908.1:c.688T>C
  • NP_000243.1:p.Trp230Arg
  • NP_001363835.1:p.Trp230Arg
  • NP_001363836.1:p.Trp193Arg
  • NP_001363837.1:p.Trp230Arg
  • LRG_839t1:c.688T>C
  • LRG_839:g.82119T>C
  • LRG_839p1:p.Trp230Arg
  • NC_000023.10:g.149814165T>C
  • NM_000252.2:c.688T>C
Protein change:
W193R
Links:
dbSNP: rs398123274
NCBI 1000 Genomes Browser:
rs398123274
Molecular consequence:
  • NM_000252.3:c.688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376906.1:c.688T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376907.1:c.577T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376908.1:c.688T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

No clinical assertions found. See "Flagged submissions" below.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110289.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110289Eurofins Ntd Llc (ga)
flagged submission
Reason: Older and outlier claim with insufficient supporting evidence
Notes: None

(EGL Classification Definitions 2015)
Uncertain significance
(Mar 18, 2013)
germlineclinical testing

Citation Link

Last Updated: Nov 10, 2024