rs10511137

Positions:

• chr3-88463052-A-G

Variant summary

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

The NM_001368165.1(CSNKA2IP):​c.-270-2036A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.293 in 152,104 control chromosomes in the GnomAD database, including 7,257 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 0.29 (7257 hom., cov: 32)
• Consequence: CSNKA2IP NM_001368165.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0550

Genes affected

CSNKA2IP (HGNC:53637): (casein kinase 2 subunit alpha' interacting protein) Predicted to be located in nucleus. [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=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.463 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CSNKA2IP	NM_001368165.1	c.-270-2036A>G		intron_variant		ENST00000637986.2	NP_001355094.1
CSNKA2IP	NM_001368166.1	c.-270-2036A>G		intron_variant			NP_001355095.1
CSNKA2IP	NM_001368167.1	c.-270-2036A>G		intron_variant			NP_001355096.1
CSNKA2IP	NM_001368168.1	c.-270-2036A>G		intron_variant			NP_001355097.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CSNKA2IP	ENST00000637986.2	c.-270-2036A>G		intron_variant		4	NM_001368165.1	ENSP00000489704	P1
CSNKA2IP	ENST00000635844.1	n.393-2036A>G		intron_variant, non_coding_transcript_variant		4
CSNKA2IP	ENST00000636323.1	n.355-2036A>G		intron_variant, non_coding_transcript_variant		4
CSNKA2IP	ENST00000638109.1	n.317-2036A>G		intron_variant, non_coding_transcript_variant		4

Frequencies

GnomAD3 genomes AF: 0.293 AC: 44462 AN: 151986 Hom.: 7246 Cov.: 32

Gnomad AFR AF: 0.175

Gnomad AMI AF: 0.431

Gnomad AMR AF: 0.451

Gnomad ASJ AF: 0.366

Gnomad EAS AF: 0.478

Gnomad SAS AF: 0.289

Gnomad FIN AF: 0.400

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.291

Gnomad OTH AF: 0.317

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

GnomAD4 genome AF: 0.293 AC: 44496 AN: 152104 Hom.: 7257 Cov.: 32 AF XY: 0.302 AC XY: 22441 AN XY: 74336

Gnomad4 AFR AF: 0.175

Gnomad4 AMR AF: 0.452

Gnomad4 ASJ AF: 0.366

Gnomad4 EAS AF: 0.479

Gnomad4 SAS AF: 0.288

Gnomad4 FIN AF: 0.400

Gnomad4 NFE AF: 0.291

Gnomad4 OTH AF: 0.314

Alfa AF: 0.282 Hom.: 1037

Bravo AF: 0.298

Asia WGS AF: 0.368 AC: 1278 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.78

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs10511137; hg19: chr3-88512202;