rs12192208

Positions:

• chr6-124372618-C-A
• chr6-124372618-C-T

Variant summary

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

The NM_001040214.3(NKAIN2):​c.273+17271C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.382 in 152,018 control chromosomes in the GnomAD database, including 11,877 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 0.38 (11877 hom., cov: 33)
• Consequence: NKAIN2 NM_001040214.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.603

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]

NKAIN2 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.535 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
NKAIN2	NM_001040214.3	c.273+17271C>A		intron_variant		ENST00000368417.6	NP_001035304.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
NKAIN2	ENST00000368417.6	c.273+17271C>A		intron_variant		5	NM_001040214.3	ENSP00000357402.1
NKAIN2	ENST00000368416.5	c.273+17271C>A		intron_variant		1		ENSP00000357401.1
NKAIN2	ENST00000476571.1	n.397+17271C>A		intron_variant		5

Frequencies

GnomAD3 genomes AF: 0.382 AC: 58003 AN: 151900 Hom.: 11848 Cov.: 33

Gnomad AFR AF: 0.540

Gnomad AMI AF: 0.304

Gnomad AMR AF: 0.404

Gnomad ASJ AF: 0.334

Gnomad EAS AF: 0.239

Gnomad SAS AF: 0.276

Gnomad FIN AF: 0.335

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.310

Gnomad OTH AF: 0.370

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

GnomAD4 genome AF: 0.382 AC: 58099 AN: 152018 Hom.: 11877 Cov.: 33 AF XY: 0.380 AC XY: 28193 AN XY: 74278

Gnomad4 AFR AF: 0.541

Gnomad4 AMR AF: 0.404

Gnomad4 ASJ AF: 0.334

Gnomad4 EAS AF: 0.238

Gnomad4 SAS AF: 0.277

Gnomad4 FIN AF: 0.335

Gnomad4 NFE AF: 0.310

Gnomad4 OTH AF: 0.373

Alfa AF: 0.214 Hom.: 468

Bravo AF: 0.401

Asia WGS AF: 0.301 AC: 1044 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	0.38
DANN	Benign	0.50

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: rs12192208; hg19: chr6-124693764; COSMIC: COSV63686848;