chr7-16088412-C-CTT

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The NM_001101426.4(CRPPA):​c.*3282_*3283insAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★★).

Frequency

Genomes: 𝑓 0.21 ( 3161 hom., cov: 0)
Failed GnomAD Quality Control

Consequence

CRPPA
NM_001101426.4 3_prime_UTR

Scores

Not classified

Clinical Significance

Uncertain significance criteria provided, single submitter U:2

Conservation

PhyloP100: 0.953
Variant links:
Genes affected
CRPPA (HGNC:37276): (CDP-L-ribitol pyrophosphorylase A) This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -8 ACMG points.

BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.291 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
CRPPANM_001101426.4 linkuse as main transcriptc.*3282_*3283insAA 3_prime_UTR_variant 10/10 ENST00000407010.7
CRPPANM_001101417.4 linkuse as main transcriptc.*3282_*3283insAA 3_prime_UTR_variant 9/9
CRPPANM_001368197.1 linkuse as main transcriptc.*3282_*3283insAA 3_prime_UTR_variant 9/9
CRPPANR_160656.1 linkuse as main transcriptn.4703_4704insAA non_coding_transcript_exon_variant 8/8

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
CRPPAENST00000407010.7 linkuse as main transcriptc.*3282_*3283insAA 3_prime_UTR_variant 10/105 NM_001101426.4 P1A4D126-1

Frequencies

GnomAD3 genomes
AF:
0.215
AC:
23735
AN:
110462
Hom.:
3162
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.0668
Gnomad AMI
AF:
0.380
Gnomad AMR
AF:
0.243
Gnomad ASJ
AF:
0.362
Gnomad EAS
AF:
0.0555
Gnomad SAS
AF:
0.113
Gnomad FIN
AF:
0.131
Gnomad MID
AF:
0.181
Gnomad NFE
AF:
0.295
Gnomad OTH
AF:
0.230
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AC:
0
AN:
0
Hom.:
0
Cov.:
0
AC XY:
0
AN XY:
0
GnomAD4 genome
AF:
0.215
AC:
23722
AN:
110468
Hom.:
3161
Cov.:
0
AF XY:
0.202
AC XY:
10343
AN XY:
51166
show subpopulations
Gnomad4 AFR
AF:
0.0667
Gnomad4 AMR
AF:
0.242
Gnomad4 ASJ
AF:
0.362
Gnomad4 EAS
AF:
0.0555
Gnomad4 SAS
AF:
0.112
Gnomad4 FIN
AF:
0.131
Gnomad4 NFE
AF:
0.295
Gnomad4 OTH
AF:
0.228

ClinVar

Significance: Uncertain significance
Submissions summary: Uncertain:2
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

Congenital Muscular Dystrophy, alpha-dystroglycan related Uncertain:2
Uncertain significance, criteria provided, single submitterclinical testingIllumina Laboratory Services, IlluminaJun 14, 2016- -
Uncertain significance, criteria provided, single submitterclinical testingIllumina Laboratory Services, IlluminaJun 14, 2016- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs71549971; hg19: chr7-16128037; API