16-80623875-C-T

Variant summary

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

The NM_152342.4(CDYL2):​c.835-2940G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.16 in 152,042 control chromosomes in the GnomAD database, including 6,297 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 0.16 ( 6297 hom., cov: 32)

Consequence

CDYL2
NM_152342.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -2.77
Variant links:
Genes affected
CDYL2 (HGNC:23030): (chromodomain Y like 2) Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

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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=-0.96).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.54 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
CDYL2NM_152342.4 linkc.835-2940G>A intron_variant Intron 3 of 6 ENST00000570137.7 NP_689555.2 Q8N8U2
CDYL2XM_011522866.2 linkc.937-2940G>A intron_variant Intron 3 of 6 XP_011521168.1
CDYL2XM_011522867.3 linkc.826-2940G>A intron_variant Intron 3 of 6 XP_011521169.1
CDYL2XM_024450151.2 linkc.658-2940G>A intron_variant Intron 3 of 6 XP_024305919.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
CDYL2ENST00000570137.7 linkc.835-2940G>A intron_variant Intron 3 of 6 1 NM_152342.4 ENSP00000476295.1 Q8N8U2

Frequencies

GnomAD3 genomes
AF:
0.160
AC:
24278
AN:
151924
Hom.:
6272
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.545
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.0623
Gnomad ASJ
AF:
0.00346
Gnomad EAS
AF:
0.0426
Gnomad SAS
AF:
0.0133
Gnomad FIN
AF:
0.00283
Gnomad MID
AF:
0.0538
Gnomad NFE
AF:
0.00346
Gnomad OTH
AF:
0.114
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.160
AC:
24350
AN:
152042
Hom.:
6297
Cov.:
32
AF XY:
0.156
AC XY:
11611
AN XY:
74350
show subpopulations
Gnomad4 AFR
AF:
0.546
Gnomad4 AMR
AF:
0.0621
Gnomad4 ASJ
AF:
0.00346
Gnomad4 EAS
AF:
0.0423
Gnomad4 SAS
AF:
0.0131
Gnomad4 FIN
AF:
0.00283
Gnomad4 NFE
AF:
0.00346
Gnomad4 OTH
AF:
0.113
Alfa
AF:
0.0257
Hom.:
125
Bravo
AF:
0.183
Asia WGS
AF:
0.0640
AC:
224
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.96
CADD
Benign
0.71
DANN
Benign
0.73

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: rs13334600; hg19: chr16-80657772; API