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NM_001927.4(DES):c.373A>T (p.Lys125Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2015
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:
RCV000261318.4

Allele description [Variation Report for NM_001927.4(DES):c.373A>T (p.Lys125Ter)]

NM_001927.4(DES):c.373A>T (p.Lys125Ter)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.373A>T (p.Lys125Ter)
HGVS:
  • NC_000002.12:g.219418835A>T
  • NG_008043.1:g.5459A>T
  • NM_001927.4:c.373A>TMANE SELECT
  • NP_001918.3:p.Lys125Ter
  • LRG_380t1:c.373A>T
  • LRG_380:g.5459A>T
  • NC_000002.11:g.220283557A>T
  • NM_001927.3:c.373A>T
Protein change:
K125*
Links:
dbSNP: rs886043000
NCBI 1000 Genomes Browser:
rs886043000
Molecular consequence:
  • NM_001927.4:c.373A>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000337843Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Pathogenic
(Nov 30, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000337843.4

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

Last Updated: Feb 28, 2024