NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 18, 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:: RCV000317087.4

Allele description [Variation Report for NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)]

NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)

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.1186G>T (p.Glu396Ter)

HGVS:

NC_000007.14:g.16216131C>A
NG_032690.2:g.210192G>T
NM_001101417.4:c.1036G>T
NM_001101426.4:c.1186G>TMANE SELECT
NM_001368197.1:c.1081G>T
NP_001094887.1:p.Glu346Ter
NP_001094896.1:p.Glu396Ter
NP_001355126.1:p.Glu361Ter
NC_000007.13:g.16255756C>A
NG_032690.1:g.210192G>T
NM_001101426.3:c.1186G>T
NR_160656.1:n.1251G>T

Protein change:

E346*

Links:

dbSNP: rs886042554

NCBI 1000 Genomes Browser:

rs886042554

Molecular consequence:

NR_160656.1:n.1251G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001101417.4:c.1036G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001101426.4:c.1186G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001368197.1:c.1081G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000334973	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Sep 18, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000334973

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Sep 18, 2015)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, et al.

Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.

PubMed [citation]

PMID:: 22522421
PMCID:: PMC3378661

Details of each submission

From Eurofins Ntd Llc (ga), SCV000334973.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 26, 2024

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