1-245158870-G-T

Variant names:

• chr1-245158870-G-T
• rs12567206
• NM_018012.4:c.465+2187G>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_018012.4(KIF26B):​c.465+2187G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.15 (161 hom., cov: 0)
• Consequence: KIF26B NM_018012.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0640
• Publications: 1 publications found

Genes affected

KIF26B (HGNC:25484): (kinesin family member 26B) The protein encoded by this gene is an intracellular motor protein thought to transport organelles along microtubules. The encoded protein is required for kidney development. Elevated levels of this protein have been found in some breast and colorectal cancers. [provided by RefSeq, Mar 2017]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.288 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_018012.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	KIF26B	NM_018012.4	MANE Select	c.465+2187G>T		intron	N/A	NP_060482.2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	KIF26B	ENST00000407071.7	TSL:1 MANE Select	c.465+2187G>T		intron	N/A	ENSP00000385545.2	Q2KJY2-1

Frequencies

GnomAD3 genomes AF: 0.147 AC: 6221 AN: 42460 Hom.: 159 Cov.: 0

Gnomad AFR AF: 0.113

Gnomad AMI AF: 0.00741

Gnomad AMR AF: 0.302

Gnomad ASJ AF: 0.161

Gnomad EAS AF: 0.311

Gnomad SAS AF: 0.146

Gnomad FIN AF: 0.133

Gnomad MID AF: 0.172

Gnomad NFE AF: 0.132

Gnomad OTH AF: 0.156

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

GnomAD4 genome AF: 0.147 AC: 6252 AN: 42556 Hom.: 161 Cov.: 0 AF XY: 0.153 AC XY: 3157 AN XY: 20666

African (AFR) AF: 0.114 AC: 1584 AN: 13946

American (AMR) AF: 0.303 AC: 1146 AN: 3788

Ashkenazi Jewish (ASJ) AF: 0.161 AC: 158 AN: 984

East Asian (EAS) AF: 0.311 AC: 380 AN: 1220

South Asian (SAS) AF: 0.147 AC: 205 AN: 1392

European-Finnish (FIN) AF: 0.133 AC: 374 AN: 2820

Middle Eastern (MID) AF: 0.172 AC: 10 AN: 58

European-Non Finnish (NFE) AF: 0.132 AC: 2313 AN: 17580

Other (OTH) AF: 0.161 AC: 80 AN: 498

Alfa AF: 0.798 Hom.: 21533

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.1
DANN	Benign	0.54
PhyloP100		0.064
Mutation Taster		=100/0	polymorphism (auto)

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs12567206; hg19: chr1-245322172;