rs7628692

chr3-143363170-T-G

Variant summary

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

The NM_173653.4(SLC9A9):c.1604+314A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.363 in 152,000 control chromosomes in the GnomAD database, including 10,224 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 0.36 (10224 hom., cov: 32)
• Consequence: SLC9A9 NM_173653.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00

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=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.395 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC9A9	NM_173653.4	c.1604+314A>C		intron_variant		ENST00000316549.11
SLC9A9	XM_011512703.4	c.956+314A>C		intron_variant
SLC9A9	XM_017006202.3	c.1711+207A>C		intron_variant
SLC9A9	XM_017006203.2	c.1253+314A>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC9A9	ENST00000316549.11	c.1604+314A>C		intron_variant		1	NM_173653.4	P1

Frequencies

GnomAD3 genomes AF: 0.363 AC: 55116 AN: 151882 Hom.: 10214 Cov.: 32

Gnomad AFR AF: 0.370

Gnomad AMI AF: 0.281

Gnomad AMR AF: 0.403

Gnomad ASJ AF: 0.313

Gnomad EAS AF: 0.354

Gnomad SAS AF: 0.319

Gnomad FIN AF: 0.496

Gnomad MID AF: 0.197

Gnomad NFE AF: 0.337

Gnomad OTH AF: 0.358

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

GnomAD4 genome AF: 0.363 AC: 55157 AN: 152000 Hom.: 10224 Cov.: 32 AF XY: 0.371 AC XY: 27570 AN XY: 74292

Gnomad4 AFR AF: 0.370

Gnomad4 AMR AF: 0.403

Gnomad4 ASJ AF: 0.313

Gnomad4 EAS AF: 0.354

Gnomad4 SAS AF: 0.321

Gnomad4 FIN AF: 0.496

Gnomad4 NFE AF: 0.337

Gnomad4 OTH AF: 0.360

Alfa AF: 0.334 Hom.: 17707

Bravo AF: 0.359

Asia WGS AF: 0.380 AC: 1324 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
Cadd	Benign	1.1
Dann	Benign	0.69

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: rs7628692; hg19: chr3-143082012;