chr6-124370091-C-T

Position:

• chr6-124370091-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+14744C>T 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 150,580 control chromosomes in the GnomAD database, including 11,646 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 (11646 hom., cov: 27)
• Consequence: NKAIN2 NM_001040214.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.715

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=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.524 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
NKAIN2	NM_001040214.3	c.273+14744C>T		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+14744C>T		intron_variant		5	NM_001040214.3	ENSP00000357402	P1
NKAIN2	ENST00000368416.5	c.273+14744C>T		intron_variant		1		ENSP00000357401
NKAIN2	ENST00000476571.1	n.397+14744C>T		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.382 AC: 57409 AN: 150464 Hom.: 11618 Cov.: 27

Gnomad AFR AF: 0.530

Gnomad AMI AF: 0.302

Gnomad AMR AF: 0.409

Gnomad ASJ AF: 0.337

Gnomad EAS AF: 0.244

Gnomad SAS AF: 0.273

Gnomad FIN AF: 0.335

Gnomad MID AF: 0.338

Gnomad NFE AF: 0.315

Gnomad OTH AF: 0.374

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

GnomAD4 genome AF: 0.382 AC: 57503 AN: 150580 Hom.: 11646 Cov.: 27 AF XY: 0.379 AC XY: 27831 AN XY: 73378

Gnomad4 AFR AF: 0.530

Gnomad4 AMR AF: 0.410

Gnomad4 ASJ AF: 0.337

Gnomad4 EAS AF: 0.244

Gnomad4 SAS AF: 0.274

Gnomad4 FIN AF: 0.335

Gnomad4 NFE AF: 0.315

Gnomad4 OTH AF: 0.377

Alfa AF: 0.326 Hom.: 13405

Bravo AF: 0.401

Asia WGS AF: 0.301 AC: 1046 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	12
DANN	Benign	0.54

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: rs9491140; hg19: chr6-124691237;