chr6-169572543-CAAA-C

Variant summary

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

The NM_182552.5(WDR27):​c.2524-6_2524-4delTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0046 ( 4 hom., cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

WDR27
NM_182552.5 splice_region, intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.347
Variant links:
Genes affected
WDR27 (HGNC:21248): (WD repeat domain 27) This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
WDR27NM_182552.5 linkc.2524-6_2524-4delTTT splice_region_variant, intron_variant Intron 24 of 25 ENST00000448612.6 NP_872358.4 A2RRH5-4

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
WDR27ENST00000448612.6 linkc.2524-6_2524-4delTTT splice_region_variant, intron_variant Intron 24 of 25 1 NM_182552.5 ENSP00000416289.1 A2RRH5-4
ENSG00000285733ENST00000648086.1 linkc.533+10290_533+10292delTTT intron_variant Intron 5 of 7 ENSP00000497979.1 A0A3B3ITY5

Frequencies

GnomAD3 genomes
AF:
0.00
AC:
429
AN:
92288
Hom.:
4
Cov.:
0
FAILED QC
Gnomad AFR
AF:
0.0162
Gnomad AMI
AF:
0.00141
Gnomad AMR
AF:
0.00299
Gnomad ASJ
AF:
0.00252
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00153
Gnomad FIN
AF:
0.00113
Gnomad MID
AF:
0.00980
Gnomad NFE
AF:
0.00191
Gnomad OTH
AF:
0.00474
GnomAD4 exome
Data not reliable, filtered out with message: AC0;AS_VQSR
AF:
0.00
AC:
0
AN:
28
Hom.:
0
AF XY:
0.00
AC XY:
0
AN XY:
4
Gnomad4 NFE exome
AF:
0.00
GnomAD4 genome
Data not reliable, filtered out with message: AS_VQSR
AF:
0.00465
AC:
429
AN:
92270
Hom.:
4
Cov.:
0
AF XY:
0.00440
AC XY:
188
AN XY:
42706
show subpopulations
Gnomad4 AFR
AF:
0.0161
Gnomad4 AMR
AF:
0.00299
Gnomad4 ASJ
AF:
0.00252
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00154
Gnomad4 FIN
AF:
0.00113
Gnomad4 NFE
AF:
0.00191
Gnomad4 OTH
AF:
0.00472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs376783967; hg19: chr6-169972639; API