rs11154221

chr6-124354100-G-Achr6-124354100-G-C

Variant summary

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

The NM_001040214.3(NKAIN2):c.193-1167G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.226 in 152,016 control chromosomes in the GnomAD database, including 3,966 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 0.23 (3966 hom., cov: 32)
• Consequence: NKAIN2 NM_001040214.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.06

Genes affected

NKAIN2 (HGNC:16443): (sodium/potassium transporting ATPase interacting 2) This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.287 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
NKAIN2	NM_001040214.3	c.193-1167G>A		intron_variant		ENST00000368417.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
NKAIN2	ENST00000368417.6	c.193-1167G>A		intron_variant		5	NM_001040214.3	P1
NKAIN2	ENST00000368416.5	c.193-1167G>A		intron_variant		1
NKAIN2	ENST00000476571.1	n.317-1167G>A		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.226 AC: 34377 AN: 151898 Hom.: 3961 Cov.: 32

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.279

Gnomad AMR AF: 0.294

Gnomad ASJ AF: 0.270

Gnomad EAS AF: 0.173

Gnomad SAS AF: 0.186

Gnomad FIN AF: 0.220

Gnomad MID AF: 0.277

Gnomad NFE AF: 0.219

Gnomad OTH AF: 0.232

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

GnomAD4 genome AF: 0.226 AC: 34414 AN: 152016 Hom.: 3966 Cov.: 32 AF XY: 0.227 AC XY: 16832 AN XY: 74288

Gnomad4 AFR AF: 0.221

Gnomad4 AMR AF: 0.294

Gnomad4 ASJ AF: 0.270

Gnomad4 EAS AF: 0.173

Gnomad4 SAS AF: 0.188

Gnomad4 FIN AF: 0.220

Gnomad4 NFE AF: 0.218

Gnomad4 OTH AF: 0.237

Alfa AF: 0.213 Hom.: 529

Bravo AF: 0.237

Asia WGS AF: 0.194 AC: 676 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
Cadd	Benign	0.071
Dann	Benign	0.58

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: rs11154221; hg19: chr6-124675246;