rs983985

Variant names:

• chr12-33150359-A-G
• rs983985

Your query was ambiguous. Multiple possible variants found:

• chr12-33150359-A-G
• chr12-33150359-A-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 0.503 in 142,374 control chromosomes in the GnomAD database, including 24,563 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 0.50 (24563 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.56
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.926 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: 0.502 AC: 71459 AN: 142256 Hom.: 24527 Cov.: 26

Gnomad AFR AF: 0.716

Gnomad AMI AF: 0.437

Gnomad AMR AF: 0.490

Gnomad ASJ AF: 0.424

Gnomad EAS AF: 0.949

Gnomad SAS AF: 0.638

Gnomad FIN AF: 0.316

Gnomad MID AF: 0.408

Gnomad NFE AF: 0.360

Gnomad OTH AF: 0.462

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

GnomAD4 genome AF: 0.503 AC: 71550 AN: 142374 Hom.: 24563 Cov.: 26 AF XY: 0.506 AC XY: 35059 AN XY: 69268

African (AFR) AF: 0.716 AC: 28872 AN: 40322

American (AMR) AF: 0.490 AC: 6672 AN: 13622

Ashkenazi Jewish (ASJ) AF: 0.424 AC: 1371 AN: 3234

East Asian (EAS) AF: 0.948 AC: 4694 AN: 4950

South Asian (SAS) AF: 0.636 AC: 2808 AN: 4412

European-Finnish (FIN) AF: 0.316 AC: 3067 AN: 9708

Middle Eastern (MID) AF: 0.408 AC: 107 AN: 262

European-Non Finnish (NFE) AF: 0.360 AC: 22683 AN: 63092

Other (OTH) AF: 0.470 AC: 914 AN: 1944

Alfa AF: 0.321 Hom.: 1444

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.81
DANN	Benign	0.72
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs983985; hg19: chr12-33303293;