12-69111744-TAA-TA

Variant names:

• chr12-69111744-TA-T
• rs72284729

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.204 in 151,584 control chromosomes in the GnomAD database, including 3,206 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.20 (3206 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.231 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: 0.204 AC: 30916 AN: 151468 Hom.: 3200 Cov.: 26

Gnomad AFR AF: 0.235

Gnomad AMI AF: 0.167

Gnomad AMR AF: 0.168

Gnomad ASJ AF: 0.214

Gnomad EAS AF: 0.180

Gnomad SAS AF: 0.104

Gnomad FIN AF: 0.246

Gnomad MID AF: 0.165

Gnomad NFE AF: 0.197

Gnomad OTH AF: 0.175

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

GnomAD4 genome AF: 0.204 AC: 30945 AN: 151584 Hom.: 3206 Cov.: 26 AF XY: 0.204 AC XY: 15115 AN XY: 74028

African (AFR) AF: 0.235 AC: 9720 AN: 41306

American (AMR) AF: 0.168 AC: 2552 AN: 15194

Ashkenazi Jewish (ASJ) AF: 0.214 AC: 741 AN: 3468

East Asian (EAS) AF: 0.180 AC: 930 AN: 5168

South Asian (SAS) AF: 0.104 AC: 498 AN: 4792

European-Finnish (FIN) AF: 0.246 AC: 2573 AN: 10474

Middle Eastern (MID) AF: 0.160 AC: 47 AN: 294

European-Non Finnish (NFE) AF: 0.197 AC: 13363 AN: 67874

Other (OTH) AF: 0.175 AC: 369 AN: 2106

Alfa AF: 0.0950 Hom.: 140

Bravo AF: 0.204

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.0

Splicing

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

Other links and lift over

dbSNP: rs72284729; hg19: chr12-69505524;