rs17740395

Positions:

• chr20-16471443-T-C

Variant summary

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

The NM_024704.5(KIF16B):​c.1302+22848A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.33 in 152,030 control chromosomes in the GnomAD database, including 8,509 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 0.33 (8509 hom., cov: 31)
• Consequence: KIF16B NM_024704.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.92

Genes affected

KIF16B (HGNC:15869): (kinesin family member 16B) The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.384 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
KIF16B	NM_024704.5	c.1302+22848A>G		intron_variant		ENST00000354981.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
KIF16B	ENST00000354981.7	c.1302+22848A>G		intron_variant		1	NM_024704.5	P1
KIF16B	ENST00000408042.5	c.1302+22848A>G		intron_variant		1
KIF16B	ENST00000636835.1	c.1302+22848A>G		intron_variant		1
KIF16B	ENST00000635823.2	c.1302+22848A>G		intron_variant		5

Frequencies

GnomAD3 genomes AF: 0.330 AC: 50136 AN: 151912 Hom.: 8501 Cov.: 31

Gnomad AFR AF: 0.238

Gnomad AMI AF: 0.324

Gnomad AMR AF: 0.358

Gnomad ASJ AF: 0.317

Gnomad EAS AF: 0.253

Gnomad SAS AF: 0.334

Gnomad FIN AF: 0.318

Gnomad MID AF: 0.313

Gnomad NFE AF: 0.388

Gnomad OTH AF: 0.322

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

GnomAD4 genome AF: 0.330 AC: 50168 AN: 152030 Hom.: 8509 Cov.: 31 AF XY: 0.327 AC XY: 24282 AN XY: 74312

Gnomad4 AFR AF: 0.239

Gnomad4 AMR AF: 0.359

Gnomad4 ASJ AF: 0.317

Gnomad4 EAS AF: 0.253

Gnomad4 SAS AF: 0.334

Gnomad4 FIN AF: 0.318

Gnomad4 NFE AF: 0.388

Gnomad4 OTH AF: 0.319

Alfa AF: 0.356 Hom.: 1830

Bravo AF: 0.328

Asia WGS AF: 0.271 AC: 944 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.087
DANN	Benign	0.35

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: rs17740395; hg19: chr20-16452088;