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NM_001927.4(DES):c.1063C>T (p.Arg355Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 30, 2022
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:
RCV001784366.4

Allele description [Variation Report for NM_001927.4(DES):c.1063C>T (p.Arg355Ter)]

NM_001927.4(DES):c.1063C>T (p.Arg355Ter)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1063C>T (p.Arg355Ter)
HGVS:
  • NC_000002.12:g.219421379C>T
  • NG_008043.1:g.8003C>T
  • NM_001927.4:c.1063C>TMANE SELECT
  • NP_001918.3:p.Arg355Ter
  • LRG_380t1:c.1063C>T
  • LRG_380:g.8003C>T
  • NC_000002.11:g.220286101C>T
  • NM_001927.3:c.1063C>T
Protein change:
R355*
Links:
dbSNP: rs762808690
NCBI 1000 Genomes Browser:
rs762808690
Molecular consequence:
  • NM_001927.4:c.1063C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

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  • Homo sapiens ribosomal protein S13 (RPS13), mRNA
    Homo sapiens ribosomal protein S13 (RPS13), mRNA
    gi|1520685461|ref|NM_001017.3|
    Nucleotide
  • beta-Mannosidase
    beta-Mannosidase
    An enzyme that catalyzes the hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides. The enzyme plays a role in the lysosomal degradation of the N-g...<br/>Year introduced: 2004
    MeSH
  • Consensus Development Conference, NIH [Publication Type]
    Consensus Development Conference, NIH [Publication Type]
    Official statements of the finding or recommendations expressing the outcome from a conference sponsored by NIH.<br/>Year introduced: 2008(2005)
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002024044Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 30, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV002024044.3

#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: Jun 23, 2024