12-1612088-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000537031.5(WNT5B):​c.-57-19210T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.676 in 152,002 control chromosomes in the GnomAD database, including 35,714 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.68 ( 35714 hom., cov: 32)

Consequence

WNT5B
ENST00000537031.5 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.68
Variant links:
Genes affected
WNT5B (HGNC:16265): (Wnt family member 5B) The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.756 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
WNT5BENST00000537031.5 linkc.-57-19210T>G intron_variant Intron 1 of 4 2 ENSP00000439312.1 Q9H1J7
WNT5BENST00000545811.5 linkc.-57-19210T>G intron_variant Intron 1 of 3 2 ENSP00000445395.1 F5H364
WNT5BENST00000539198.5 linkc.-57-19210T>G intron_variant Intron 1 of 3 4 ENSP00000438414.1 F5H034

Frequencies

GnomAD3 genomes
AF:
0.677
AC:
102762
AN:
151884
Hom.:
35696
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.556
Gnomad AMI
AF:
0.620
Gnomad AMR
AF:
0.594
Gnomad ASJ
AF:
0.778
Gnomad EAS
AF:
0.435
Gnomad SAS
AF:
0.719
Gnomad FIN
AF:
0.785
Gnomad MID
AF:
0.785
Gnomad NFE
AF:
0.761
Gnomad OTH
AF:
0.702
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.676
AC:
102817
AN:
152002
Hom.:
35714
Cov.:
32
AF XY:
0.676
AC XY:
50247
AN XY:
74300
show subpopulations
Gnomad4 AFR
AF:
0.556
Gnomad4 AMR
AF:
0.593
Gnomad4 ASJ
AF:
0.778
Gnomad4 EAS
AF:
0.435
Gnomad4 SAS
AF:
0.719
Gnomad4 FIN
AF:
0.785
Gnomad4 NFE
AF:
0.761
Gnomad4 OTH
AF:
0.705
Alfa
AF:
0.630
Hom.:
2985
Bravo
AF:
0.652
Asia WGS
AF:
0.577
AC:
2009
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.87
CADD
Benign
0.015
DANN
Benign
0.52

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: rs4765830; hg19: chr12-1721254; API