8-62347623-A-G

Position:

• chr8-62347623-A-G

Variant summary

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

The NM_001304533.3(NKAIN3):​c.54+98496A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.868 in 152,048 control chromosomes in the GnomAD database, including 57,855 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 0.87 (57855 hom., cov: 32)
• Consequence: NKAIN3 NM_001304533.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.173

Genes affected

NKAIN3 (HGNC:26829): (sodium/potassium transporting ATPase interacting 3) NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.93 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
NKAIN3	NM_001304533.3	c.54+98496A>G		intron_variant		ENST00000623646.3	NP_001291462.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
NKAIN3	ENST00000623646.3	c.54+98496A>G		intron_variant			NM_001304533.3	ENSP00000501908	P1

Frequencies

GnomAD3 genomes AF: 0.868 AC: 131857 AN: 151930 Hom.: 57823 Cov.: 32

Gnomad AFR AF: 0.733

Gnomad AMI AF: 0.925

Gnomad AMR AF: 0.872

Gnomad ASJ AF: 0.904

Gnomad EAS AF: 0.951

Gnomad SAS AF: 0.919

Gnomad FIN AF: 0.977

Gnomad MID AF: 0.889

Gnomad NFE AF: 0.919

Gnomad OTH AF: 0.859

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

GnomAD4 genome AF: 0.868 AC: 131938 AN: 152048 Hom.: 57855 Cov.: 32 AF XY: 0.872 AC XY: 64788 AN XY: 74334

Gnomad4 AFR AF: 0.733

Gnomad4 AMR AF: 0.872

Gnomad4 ASJ AF: 0.904

Gnomad4 EAS AF: 0.952

Gnomad4 SAS AF: 0.919

Gnomad4 FIN AF: 0.977

Gnomad4 NFE AF: 0.919

Gnomad4 OTH AF: 0.860

Alfa AF: 0.888 Hom.: 17831

Bravo AF: 0.854

Asia WGS AF: 0.922 AC: 3203 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.65
DANN	Benign	0.74

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: rs4738955; hg19: chr8-63260182;