rs11830829

Variant names:

• chr12-32946195-A-G
• rs11830829

Your query was ambiguous. Multiple possible variants found:

• chr12-32946195-A-G
• chr12-32946195-A-T

Variant summary

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

The variant allele was found at a frequency of 0.432 in 151,934 control chromosomes in the GnomAD database, including 15,734 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 0.43 (15734 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.942

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.697 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: 0.432 AC: 65519 AN: 151816 Hom.: 15701 Cov.: 32

Gnomad AFR AF: 0.619

Gnomad AMI AF: 0.438

Gnomad AMR AF: 0.384

Gnomad ASJ AF: 0.249

Gnomad EAS AF: 0.718

Gnomad SAS AF: 0.423

Gnomad FIN AF: 0.344

Gnomad MID AF: 0.294

Gnomad NFE AF: 0.331

Gnomad OTH AF: 0.416

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

GnomAD4 genome AF: 0.432 AC: 65616 AN: 151934 Hom.: 15734 Cov.: 32 AF XY: 0.433 AC XY: 32147 AN XY: 74238

Gnomad4 AFR AF: 0.619

Gnomad4 AMR AF: 0.384

Gnomad4 ASJ AF: 0.249

Gnomad4 EAS AF: 0.716

Gnomad4 SAS AF: 0.424

Gnomad4 FIN AF: 0.344

Gnomad4 NFE AF: 0.331

Gnomad4 OTH AF: 0.419

Alfa AF: 0.339 Hom.: 17798

Bravo AF: 0.445

Asia WGS AF: 0.563 AC: 1956 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.30
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11830829; hg19: chr12-33099129; COSMIC: COSV70886407;