rs1033210

Variant names:

• chr2-147038778-C-T
• rs1033210

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.105 in 152,146 control chromosomes in the GnomAD database, including 1,272 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 0.10 (1272 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.415
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.215 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.104 AC: 15866 AN: 152028 Hom.: 1249 Cov.: 32

Gnomad AFR AF: 0.218

Gnomad AMI AF: 0.00548

Gnomad AMR AF: 0.0779

Gnomad ASJ AF: 0.0957

Gnomad EAS AF: 0.107

Gnomad SAS AF: 0.0656

Gnomad FIN AF: 0.0718

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0508

Gnomad OTH AF: 0.101

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

GnomAD4 genome AF: 0.105 AC: 15932 AN: 152146 Hom.: 1272 Cov.: 32 AF XY: 0.104 AC XY: 7726 AN XY: 74386

African (AFR) AF: 0.219 AC: 9082 AN: 41478

American (AMR) AF: 0.0777 AC: 1188 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.0957 AC: 332 AN: 3470

East Asian (EAS) AF: 0.107 AC: 552 AN: 5174

South Asian (SAS) AF: 0.0657 AC: 317 AN: 4828

European-Finnish (FIN) AF: 0.0718 AC: 760 AN: 10592

Middle Eastern (MID) AF: 0.0986 AC: 29 AN: 294

European-Non Finnish (NFE) AF: 0.0508 AC: 3457 AN: 67990

Other (OTH) AF: 0.0993 AC: 210 AN: 2114

Alfa AF: 0.0758 Hom.: 163

Bravo AF: 0.113

Asia WGS AF: 0.0980 AC: 342 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.6
DANN	Benign	0.50
PhyloP100		-0.41

Splicing

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

Other links and lift over

dbSNP: rs1033210; hg19: chr2-147796346;