rs6917824

Positions:

• chr6-124021518-A-G

Variant summary

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

The NM_001040214.3(NKAIN2):​c.54+217264A>G 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 151,814 control chromosomes in the GnomAD database, including 4,863 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 (4863 hom., cov: 32)
• Consequence: NKAIN2 NM_001040214.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.40

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=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.391 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
NKAIN2	NM_001040214.3	c.54+217264A>G		intron_variant		ENST00000368417.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
NKAIN2	ENST00000368417.6	c.54+217264A>G		intron_variant		5	NM_001040214.3	P1
NKAIN2	ENST00000368416.5	c.54+217264A>G		intron_variant		1
NKAIN2	ENST00000476571.1	n.115-100360A>G		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.225 AC: 34208 AN: 151702 Hom.: 4848 Cov.: 32

Gnomad AFR AF: 0.396

Gnomad AMI AF: 0.320

Gnomad AMR AF: 0.247

Gnomad ASJ AF: 0.205

Gnomad EAS AF: 0.00734

Gnomad SAS AF: 0.190

Gnomad FIN AF: 0.0965

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.156

Gnomad OTH AF: 0.238

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

GnomAD4 genome AF: 0.226 AC: 34271 AN: 151814 Hom.: 4863 Cov.: 32 AF XY: 0.222 AC XY: 16483 AN XY: 74222

Gnomad4 AFR AF: 0.396

Gnomad4 AMR AF: 0.248

Gnomad4 ASJ AF: 0.205

Gnomad4 EAS AF: 0.00716

Gnomad4 SAS AF: 0.191

Gnomad4 FIN AF: 0.0965

Gnomad4 NFE AF: 0.156

Gnomad4 OTH AF: 0.240

Alfa AF: 0.186 Hom.: 1337

Bravo AF: 0.249

Asia WGS AF: 0.141 AC: 483 AN: 3412

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	5.9
DANN	Benign	0.85

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: rs6917824; hg19: chr6-124342663;