rs2416594

chr9-117298095-A-G

Variant summary

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

The NM_001365068.1(ASTN2):c.443-6582T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.417 in 152,046 control chromosomes in the GnomAD database, including 14,350 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 0.42 (14350 hom., cov: 32)
• Consequence: ASTN2 NM_001365068.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.913

Genes affected

ASTN2 (HGNC:17021): (astrotactin 2) This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.591 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ASTN2	NM_001365068.1	c.443-6582T>C		intron_variant		ENST00000313400.9
ASTN2	NM_001365069.1	c.443-6582T>C		intron_variant
ASTN2	NM_014010.5	c.443-6582T>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ASTN2	ENST00000313400.9	c.443-6582T>C		intron_variant		5	NM_001365068.1	A2
ASTN2	ENST00000361209.6	c.443-6582T>C		intron_variant		1		P2
ASTN2	ENST00000361477.8	c.443-6582T>C		intron_variant		5		A2

Frequencies

GnomAD3 genomes AF: 0.417 AC: 63417 AN: 151928 Hom.: 14357 Cov.: 32

Gnomad AFR AF: 0.247

Gnomad AMI AF: 0.396

Gnomad AMR AF: 0.459

Gnomad ASJ AF: 0.460

Gnomad EAS AF: 0.420

Gnomad SAS AF: 0.609

Gnomad FIN AF: 0.574

Gnomad MID AF: 0.478

Gnomad NFE AF: 0.472

Gnomad OTH AF: 0.412

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

GnomAD4 genome AF: 0.417 AC: 63422 AN: 152046 Hom.: 14350 Cov.: 32 AF XY: 0.426 AC XY: 31681 AN XY: 74342

Gnomad4 AFR AF: 0.246

Gnomad4 AMR AF: 0.460

Gnomad4 ASJ AF: 0.460

Gnomad4 EAS AF: 0.420

Gnomad4 SAS AF: 0.609

Gnomad4 FIN AF: 0.574

Gnomad4 NFE AF: 0.472

Gnomad4 OTH AF: 0.409

Alfa AF: 0.464 Hom.: 11780

Bravo AF: 0.397

Asia WGS AF: 0.505 AC: 1753 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	0.44
Dann	Benign	0.35

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: rs2416594; hg19: chr9-120060374;