NM_007187.5:c.262+14_262+23delAAAAAAAAAA

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_007187.5(WBP4):​c.262+14_262+23delAAAAAAAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000761 in 1,182,176 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 25)
Exomes 𝑓: 0.0000076 ( 0 hom. )

Consequence

WBP4
NM_007187.5 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.966
Variant links:
Genes affected
WBP4 (HGNC:12739): (WW domain binding protein 4) This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
WBP4NM_007187.5 linkc.262+14_262+23delAAAAAAAAAA intron_variant Intron 4 of 9 ENST00000379487.5 NP_009118.1 O75554-1
WBP4XM_005266245.3 linkc.355+14_355+23delAAAAAAAAAA intron_variant Intron 4 of 9 XP_005266302.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
WBP4ENST00000379487.5 linkc.262+3_262+12delAAAAAAAAAA splice_region_variant, intron_variant Intron 4 of 9 1 NM_007187.5 ENSP00000368801.3 O75554-1

Frequencies

GnomAD3 genomes
Cov.:
25
GnomAD4 exome
AF:
0.00000761
AC:
9
AN:
1182176
Hom.:
0
AF XY:
0.00000520
AC XY:
3
AN XY:
576656
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.0000188
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00000622
Gnomad4 OTH exome
AF:
0.0000418
GnomAD4 genome
Cov.:
25

ClinVar

Not reported in ClinVar

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: rs58699334; hg19: chr13-41639425; API