rs952831

Positions:

• chr10-97184453-C-T

Variant summary

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

The NM_003061.3(SLIT1):​c.197+1025G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0523 in 152,126 control chromosomes in the GnomAD database, including 520 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 0.052 (520 hom., cov: 32)
• Consequence: SLIT1 NM_003061.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.490

Genes affected

SLIT1 (HGNC:11085): (slit guidance ligand 1) Enables Roundabout binding activity. Involved in axon extension involved in axon guidance; motor neuron axon guidance; and negative chemotaxis. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

ARHGAP19-SLIT1 (HGNC:):

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 (AFR) allele frequency at 95% confidence interval = 0.155 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLIT1	NM_003061.3	c.197+1025G>A		intron_variant		ENST00000266058.9
ARHGAP19-SLIT1	NR_037909.1	n.1521-19563G>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLIT1	ENST00000266058.9	c.197+1025G>A		intron_variant		1	NM_003061.3	P1

Frequencies

GnomAD3 genomes AF: 0.0523 AC: 7948 AN: 152008 Hom.: 517 Cov.: 32

Gnomad AFR AF: 0.159

Gnomad AMI AF: 0.0197

Gnomad AMR AF: 0.0221

Gnomad ASJ AF: 0.0196

Gnomad EAS AF: 0.0233

Gnomad SAS AF: 0.0139

Gnomad FIN AF: 0.00283

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.00939

Gnomad OTH AF: 0.0484

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

GnomAD4 genome AF: 0.0523 AC: 7959 AN: 152126 Hom.: 520 Cov.: 32 AF XY: 0.0502 AC XY: 3736 AN XY: 74378

Gnomad4 AFR AF: 0.158

Gnomad4 AMR AF: 0.0221

Gnomad4 ASJ AF: 0.0196

Gnomad4 EAS AF: 0.0232

Gnomad4 SAS AF: 0.0135

Gnomad4 FIN AF: 0.00283

Gnomad4 NFE AF: 0.00941

Gnomad4 OTH AF: 0.0479

Alfa AF: 0.0306 Hom.: 46

Bravo AF: 0.0586

Asia WGS AF: 0.0340 AC: 119 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	5.2
DANN	Benign	0.80

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: rs952831; hg19: chr10-98944210;