chr11-60948240-C-T

Position:

• chr11-60948240-C-T

Variant summary

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

The NM_016582.3(SLC15A3):​c.559-1419G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.366 in 152,034 control chromosomes in the GnomAD database, including 11,668 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 0.37 (11668 hom., cov: 32)
• Consequence: SLC15A3 NM_016582.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.17

Genes affected

SLC15A3 (HGNC:18068): (solute carrier family 15 member 3) Enables dipeptide transmembrane transporter activity. Involved in dipeptide import across plasma membrane. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.46 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC15A3	NM_016582.3	c.559-1419G>A		intron_variant		ENST00000227880.8
SLC15A3	XM_011545095.3	c.559-1419G>A		intron_variant
SLC15A3	NR_027391.2	n.1184-1419G>A		intron_variant, non_coding_transcript_variant
SLC15A3	XR_007062485.1	n.1184-1419G>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC15A3	ENST00000227880.8	c.559-1419G>A		intron_variant		1	NM_016582.3	P2

Frequencies

GnomAD3 genomes AF: 0.366 AC: 55582 AN: 151918 Hom.: 11666 Cov.: 32

Gnomad AFR AF: 0.159

Gnomad AMI AF: 0.354

Gnomad AMR AF: 0.432

Gnomad ASJ AF: 0.523

Gnomad EAS AF: 0.294

Gnomad SAS AF: 0.424

Gnomad FIN AF: 0.397

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.464

Gnomad OTH AF: 0.395

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

GnomAD4 genome AF: 0.366 AC: 55617 AN: 152034 Hom.: 11668 Cov.: 32 AF XY: 0.365 AC XY: 27119 AN XY: 74336

Gnomad4 AFR AF: 0.159

Gnomad4 AMR AF: 0.433

Gnomad4 ASJ AF: 0.523

Gnomad4 EAS AF: 0.294

Gnomad4 SAS AF: 0.425

Gnomad4 FIN AF: 0.397

Gnomad4 NFE AF: 0.464

Gnomad4 OTH AF: 0.396

Alfa AF: 0.452 Hom.: 21064

Bravo AF: 0.357

Asia WGS AF: 0.348 AC: 1210 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.036
DANN	Benign	0.75

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: rs566353; hg19: chr11-60715712;