16-52593614-A-G

Position:

• chr16-52593614-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000510238.8(CASC16):​n.483-2547T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.444 in 152,044 control chromosomes in the GnomAD database, including 15,553 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 0.44 (15553 hom., cov: 33)
• Consequence: CASC16 ENST00000510238.8 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.08

Genes affected

CASC16 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.763 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CASC16	NR_033920.1	n.473-2547T>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CASC16	ENST00000510238.8	n.483-2547T>C		intron_variant		1
CASC16	ENST00000563844.1	n.313-2547T>C		intron_variant		3
CASC16	ENST00000652959.1	n.340-2547T>C		intron_variant
CASC16	ENST00000671536.1	n.490-2547T>C		intron_variant

Frequencies

GnomAD3 genomes AF: 0.444 AC: 67448 AN: 151926 Hom.: 15533 Cov.: 33

Gnomad AFR AF: 0.413

Gnomad AMI AF: 0.478

Gnomad AMR AF: 0.536

Gnomad ASJ AF: 0.526

Gnomad EAS AF: 0.783

Gnomad SAS AF: 0.456

Gnomad FIN AF: 0.362

Gnomad MID AF: 0.601

Gnomad NFE AF: 0.422

Gnomad OTH AF: 0.498

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.444 AC: 67516 AN: 152044 Hom.: 15553 Cov.: 33 AF XY: 0.443 AC XY: 32951 AN XY: 74312

Gnomad4 AFR AF: 0.413

Gnomad4 AMR AF: 0.536

Gnomad4 ASJ AF: 0.526

Gnomad4 EAS AF: 0.783

Gnomad4 SAS AF: 0.456

Gnomad4 FIN AF: 0.362

Gnomad4 NFE AF: 0.422

Gnomad4 OTH AF: 0.502

Alfa AF: 0.446 Hom.: 6718

Bravo AF: 0.457

Asia WGS AF: 0.577 AC: 2007 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	5.5
DANN	Benign	0.84

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3112623; hg19: chr16-52627526;