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NM_001101426.4(CRPPA):c.1026+1G>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 2017
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:
RCV000520716.1

Allele description [Variation Report for NM_001101426.4(CRPPA):c.1026+1G>T]

NM_001101426.4(CRPPA):c.1026+1G>T

Genes:
CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]
CRPPA-AS1:CRPPA antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p21.2
Genomic location:
Preferred name:
NM_001101426.4(CRPPA):c.1026+1G>T
HGVS:
  • NC_000007.14:g.16258919C>A
  • NG_032690.2:g.167404G>T
  • NM_001101417.4:c.876+1G>T
  • NM_001101426.4:c.1026+1G>TMANE SELECT
  • NM_001368197.1:c.921+1G>T
  • NC_000007.13:g.16298544C>A
  • NM_001101426.3:c.1026+1G>T
Links:
dbSNP: rs1554300301
NCBI 1000 Genomes Browser:
rs1554300301
Molecular consequence:
  • NM_001101417.4:c.876+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001101426.4:c.1026+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368197.1:c.921+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000619314GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 19, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000619314.2

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

Description

The c.1026+1G>T variant in the ISPD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 7, resulting in an in-frame deletion of exon 7. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1026+1G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1026+1G>T as a variant of uncertain significance.

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

Last Updated: Jun 10, 2023