rs17216786

chr16-83453866-C-A

Variant summary

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

The NM_001257.5(CDH13):c.782-32611C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0521 in 152,296 control chromosomes in the GnomAD database, including 247 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 0.052 (247 hom., cov: 33)
• Consequence: CDH13 NM_001257.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.53

Genes affected

CDH13 (HGNC:1753): (cadherin 13) This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0676 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CDH13	NM_001257.5	c.782-32611C>A		intron_variant		ENST00000567109.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CDH13	ENST00000567109.6	c.782-32611C>A		intron_variant		1	NM_001257.5	P1

Frequencies

GnomAD3 genomes AF: 0.0522 AC: 7937 AN: 152178 Hom.: 247 Cov.: 33

Gnomad AFR AF: 0.0249

Gnomad AMI AF: 0.0373

Gnomad AMR AF: 0.0493

Gnomad ASJ AF: 0.0611

Gnomad EAS AF: 0.00693

Gnomad SAS AF: 0.0375

Gnomad FIN AF: 0.0761

Gnomad MID AF: 0.114

Gnomad NFE AF: 0.0692

Gnomad OTH AF: 0.0657

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

GnomAD4 genome AF: 0.0521 AC: 7938 AN: 152296 Hom.: 247 Cov.: 33 AF XY: 0.0523 AC XY: 3897 AN XY: 74472

Gnomad4 AFR AF: 0.0248

Gnomad4 AMR AF: 0.0493

Gnomad4 ASJ AF: 0.0611

Gnomad4 EAS AF: 0.00694

Gnomad4 SAS AF: 0.0381

Gnomad4 FIN AF: 0.0761

Gnomad4 NFE AF: 0.0692

Gnomad4 OTH AF: 0.0650

Alfa AF: 0.0663 Hom.: 480

Bravo AF: 0.0502

Asia WGS AF: 0.0290 AC: 100 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
Cadd	Benign	0.0030
Dann	Benign	0.67

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

Other links and lift over

dbSNP: rs17216786; hg19: chr16-83487471;