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NM_001927.4(DES):c.1346A>C (p.Lys449Thr) AND Myofibrillar myopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 16, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000239724.2

Allele description [Variation Report for NM_001927.4(DES):c.1346A>C (p.Lys449Thr)]

NM_001927.4(DES):c.1346A>C (p.Lys449Thr)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
HGVS:
  • NC_000002.12:g.219425720A>C
  • NG_008043.1:g.12344A>C
  • NM_001927.4:c.1346A>CMANE SELECT
  • NP_001918.3:p.Lys449Thr
  • LRG_380t1:c.1346A>C
  • LRG_380:g.12344A>C
  • NC_000002.11:g.220290442A>C
  • NM_001927.3:c.1346A>C
  • P17661:p.Lys449Thr
Protein change:
K449T
Links:
UniProtKB: P17661#VAR_042461; dbSNP: rs267607485
NCBI 1000 Genomes Browser:
rs267607485
Molecular consequence:
  • NM_001927.4:c.1346A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Myofibrillar myopathy
Synonyms:
Protein surplus myopathy (former name)
Identifiers:
MONDO: MONDO:0018943; MedGen: C2678065; OMIM: PS601419; Human Phenotype Ontology: HP:0003715

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000298020Wellcome Centre for Mitochondrial Research, Newcastle University
no assertion criteria provided
Pathogenic
(Aug 16, 2016) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Wellcome Centre for Mitochondrial Research, Newcastle University, SCV000298020.1

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

Last Updated: Apr 15, 2024