rs12611226

Variant names:

• chr19-47966964-G-A
• rs12611226

Your query was ambiguous. Multiple possible variants found:

• chr19-47966964-G-A
• chr19-47966964-G-T

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 0.415 in 151,170 control chromosomes in the GnomAD database, including 15,059 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 0.41 (15059 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.42
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.525 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: 0.415 AC: 62684 AN: 151084 Hom.: 15068 Cov.: 30

Gnomad AFR AF: 0.158

Gnomad AMI AF: 0.526

Gnomad AMR AF: 0.485

Gnomad ASJ AF: 0.518

Gnomad EAS AF: 0.340

Gnomad SAS AF: 0.494

Gnomad FIN AF: 0.531

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.530

Gnomad OTH AF: 0.433

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

GnomAD4 genome AF: 0.415 AC: 62665 AN: 151170 Hom.: 15059 Cov.: 30 AF XY: 0.418 AC XY: 30858 AN XY: 73788

African (AFR) AF: 0.157 AC: 6458 AN: 41110

American (AMR) AF: 0.484 AC: 7358 AN: 15194

Ashkenazi Jewish (ASJ) AF: 0.518 AC: 1793 AN: 3464

East Asian (EAS) AF: 0.339 AC: 1745 AN: 5142

South Asian (SAS) AF: 0.494 AC: 2365 AN: 4792

European-Finnish (FIN) AF: 0.531 AC: 5453 AN: 10270

Middle Eastern (MID) AF: 0.524 AC: 152 AN: 290

European-Non Finnish (NFE) AF: 0.530 AC: 35956 AN: 67900

Other (OTH) AF: 0.432 AC: 906 AN: 2098

Alfa AF: 0.488 Hom.: 68931

Bravo AF: 0.398

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.5
DANN	Benign	0.72
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs12611226; hg19: chr19-48470221;