rs17630235

Variant names:

• chr12-112153882-G-A
• rs17630235

Your query was ambiguous. Multiple possible variants found:

• chr12-112153882-G-A
• chr12-112153882-G-C

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 0.283 in 152,100 control chromosomes in the GnomAD database, including 8,472 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 0.28 (8472 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0790
• Publications: 55 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.415 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: 0.283 AC: 43081 AN: 151982 Hom.: 8477 Cov.: 31

Gnomad AFR AF: 0.0694

Gnomad AMI AF: 0.398

Gnomad AMR AF: 0.259

Gnomad ASJ AF: 0.653

Gnomad EAS AF: 0.00173

Gnomad SAS AF: 0.0769

Gnomad FIN AF: 0.376

Gnomad MID AF: 0.361

Gnomad NFE AF: 0.420

Gnomad OTH AF: 0.315

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

GnomAD4 genome AF: 0.283 AC: 43059 AN: 152100 Hom.: 8472 Cov.: 31 AF XY: 0.274 AC XY: 20405 AN XY: 74336

African (AFR) AF: 0.0692 AC: 2874 AN: 41544

American (AMR) AF: 0.258 AC: 3949 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.653 AC: 2263 AN: 3466

East Asian (EAS) AF: 0.00174 AC: 9 AN: 5180

South Asian (SAS) AF: 0.0768 AC: 370 AN: 4820

European-Finnish (FIN) AF: 0.376 AC: 3969 AN: 10544

Middle Eastern (MID) AF: 0.357 AC: 105 AN: 294

European-Non Finnish (NFE) AF: 0.419 AC: 28499 AN: 67942

Other (OTH) AF: 0.313 AC: 660 AN: 2112

Alfa AF: 0.314 Hom.: 3690

Bravo AF: 0.270

Asia WGS AF: 0.0510 AC: 178 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	14
DANN	Benign	0.73
PhyloP100		0.079

Splicing

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

Other links and lift over

dbSNP: rs17630235; hg19: chr12-112591686;