rs2237057

Positions:

• chr5-132708252-G-A

Variant summary

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

The NM_001300791.2(KIF3A):​c.1300+655C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.592 in 148,142 control chromosomes in the GnomAD database, including 28,030 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 0.59 (28030 hom., cov: 23)
• Consequence: KIF3A NM_001300791.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.365

Genes affected

KIF3A (HGNC:6319): (kinesin family member 3A) Enables protein phosphatase binding activity; small GTPase binding activity; and spectrin binding activity. Involved in protein localization to cell junction and protein transport. Located in centriole and centrosome. Part of kinesin II complex. Colocalizes with spindle microtubule. [provided by Alliance of Genome Resources, Apr 2022]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.06).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.73 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
KIF3A	NM_001300791.2	c.1300+655C>T		intron_variant		ENST00000403231.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
KIF3A	ENST00000403231.6	c.1300+655C>T		intron_variant		2	NM_001300791.2
	ENST00000628061.1	n.112-14809G>A		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.592 AC: 87617 AN: 148034 Hom.: 28031 Cov.: 23

Gnomad AFR AF: 0.401

Gnomad AMI AF: 0.907

Gnomad AMR AF: 0.562

Gnomad ASJ AF: 0.713

Gnomad EAS AF: 0.163

Gnomad SAS AF: 0.646

Gnomad FIN AF: 0.538

Gnomad MID AF: 0.688

Gnomad NFE AF: 0.735

Gnomad OTH AF: 0.637

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

GnomAD4 genome AF: 0.592 AC: 87639 AN: 148142 Hom.: 28030 Cov.: 23 AF XY: 0.580 AC XY: 41818 AN XY: 72096

Gnomad4 AFR AF: 0.400

Gnomad4 AMR AF: 0.562

Gnomad4 ASJ AF: 0.713

Gnomad4 EAS AF: 0.163

Gnomad4 SAS AF: 0.647

Gnomad4 FIN AF: 0.538

Gnomad4 NFE AF: 0.735

Gnomad4 OTH AF: 0.634

Alfa AF: 0.643 Hom.: 4083

Bravo AF: 0.577

Asia WGS AF: 0.448 AC: 1558 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	1.6
DANN	Benign	0.62

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: rs2237057; hg19: chr5-132043944;