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NM_001101426.4(CRPPA):c.886A>T (p.Lys296Ter) AND Congenital Muscular Dystrophy, alpha-dystroglycan related

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2019
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:
RCV000778144.4

Allele description [Variation Report for NM_001101426.4(CRPPA):c.886A>T (p.Lys296Ter)]

NM_001101426.4(CRPPA):c.886A>T (p.Lys296Ter)

Gene:
CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p21.2
Genomic location:
Preferred name:
NM_001101426.4(CRPPA):c.886A>T (p.Lys296Ter)
HGVS:
  • NC_000007.14:g.16278176T>A
  • NG_032690.2:g.148147A>T
  • NM_001101417.4:c.736A>T
  • NM_001101426.4:c.886A>TMANE SELECT
  • NM_001368197.1:c.781A>T
  • NP_001094887.1:p.Lys246Ter
  • NP_001094896.1:p.Lys296Ter
  • NP_001355126.1:p.Lys261Ter
  • NC_000007.13:g.16317801T>A
  • NG_032690.1:g.148147A>T
  • NM_001101426.3:c.886A>T
  • NR_160656.1:n.951A>T
Protein change:
K246*
Links:
dbSNP: rs1562603579
NCBI 1000 Genomes Browser:
rs1562603579
Molecular consequence:
  • NR_160656.1:n.951A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001101417.4:c.736A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001101426.4:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368197.1:c.781A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Congenital Muscular Dystrophy, alpha-dystroglycan related
Identifiers:
MedGen: CN239202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000914275Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Apr 5, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000914275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ISPD c.886A>T (p.Lys296Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for alpha-dystroglycan related congenital muscular dystrophy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023