chr3-143421586-A-T

Position:

• chr3-143421586-A-T

Variant summary

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

The NM_173653.4(SLC9A9):​c.1470-39472T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.591 in 151,996 control chromosomes in the GnomAD database, including 26,758 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 0.59 (26758 hom., cov: 32)
• Consequence: SLC9A9 NM_173653.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.347

Genes affected

SLC9A9 (HGNC:20653): (solute carrier family 9 member A9) This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.715 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC9A9	NM_173653.4	c.1470-39472T>A		intron_variant		ENST00000316549.11
SLC9A9	XM_011512703.4	c.822-39472T>A		intron_variant
SLC9A9	XM_017006202.3	c.1470-39472T>A		intron_variant
SLC9A9	XM_017006203.2	c.1119-39472T>A		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC9A9	ENST00000316549.11	c.1470-39472T>A		intron_variant		1	NM_173653.4	P1

Frequencies

GnomAD3 genomes AF: 0.591 AC: 89705 AN: 151878 Hom.: 26749 Cov.: 32

Gnomad AFR AF: 0.552

Gnomad AMI AF: 0.596

Gnomad AMR AF: 0.575

Gnomad ASJ AF: 0.699

Gnomad EAS AF: 0.571

Gnomad SAS AF: 0.734

Gnomad FIN AF: 0.659

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.593

Gnomad OTH AF: 0.603

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

GnomAD4 genome AF: 0.591 AC: 89757 AN: 151996 Hom.: 26758 Cov.: 32 AF XY: 0.597 AC XY: 44338 AN XY: 74320

Gnomad4 AFR AF: 0.552

Gnomad4 AMR AF: 0.575

Gnomad4 ASJ AF: 0.699

Gnomad4 EAS AF: 0.571

Gnomad4 SAS AF: 0.735

Gnomad4 FIN AF: 0.659

Gnomad4 NFE AF: 0.593

Gnomad4 OTH AF: 0.599

Alfa AF: 0.483 Hom.: 1399

Bravo AF: 0.578

Asia WGS AF: 0.650 AC: 2264 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	4.7
DANN	Benign	0.65

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: rs6789065; hg19: chr3-143140428;