6-124589242-A-C

Variant names:

• chr6-124589242-A-C
• rs637547
• NM_001040214.3:c.274-68944A>C

Variant summary

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

The NM_001040214.3(NKAIN2):​c.274-68944A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.818 in 152,152 control chromosomes in the GnomAD database, including 51,893 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 0.82 (51893 hom., cov: 32)
• Consequence: NKAIN2 NM_001040214.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.527
• Publications: 4 publications found

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

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.888 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001040214.3. 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
	NKAIN2	NM_001040214.3	MANE Select	c.274-68944A>C		intron	N/A	NP_001035304.1	Q5VXU1-1
	NKAIN2	NM_001300737.2		c.271-68944A>C		intron	N/A	NP_001287666.1	Q5VXU1-3
	NKAIN2	NM_153355.5		c.274-202097A>C		intron	N/A	NP_699186.2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NKAIN2	ENST00000368417.6	TSL:5 MANE Select	c.274-68944A>C		intron	N/A	ENSP00000357402.1	Q5VXU1-1
	NKAIN2	ENST00000368416.5	TSL:1	c.274-68944A>C		intron	N/A	ENSP00000357401.1	Q5VXU1-2

Frequencies

GnomAD3 genomes AF: 0.818 AC: 124352 AN: 152034 Hom.: 51875 Cov.: 32

Gnomad AFR AF: 0.642

Gnomad AMI AF: 0.998

Gnomad AMR AF: 0.884

Gnomad ASJ AF: 0.915

Gnomad EAS AF: 0.736

Gnomad SAS AF: 0.892

Gnomad FIN AF: 0.877

Gnomad MID AF: 0.851

Gnomad NFE AF: 0.894

Gnomad OTH AF: 0.828

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

GnomAD4 genome AF: 0.818 AC: 124415 AN: 152152 Hom.: 51893 Cov.: 32 AF XY: 0.819 AC XY: 60874 AN XY: 74370

African (AFR) AF: 0.642 AC: 26626 AN: 41484

American (AMR) AF: 0.884 AC: 13521 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.915 AC: 3174 AN: 3470

East Asian (EAS) AF: 0.735 AC: 3796 AN: 5162

South Asian (SAS) AF: 0.891 AC: 4305 AN: 4830

European-Finnish (FIN) AF: 0.877 AC: 9284 AN: 10590

Middle Eastern (MID) AF: 0.844 AC: 248 AN: 294

European-Non Finnish (NFE) AF: 0.894 AC: 60798 AN: 68000

Other (OTH) AF: 0.829 AC: 1755 AN: 2116

Alfa AF: 0.880 Hom.: 95291

Bravo AF: 0.811

Asia WGS AF: 0.829 AC: 2880 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	5.9
DANN	Benign	0.72
PhyloP100		0.53
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

Other links and lift over

dbSNP: rs637547; hg19: chr6-124910388;