21-33091332-G-A

Variant names:

• chr21-33091332-G-A
• rs7276171

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 0.705 in 152,174 control chromosomes in the GnomAD database, including 37,986 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 0.70 (37986 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0510
• Publications: 7 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 (AFR) allele frequency at 95% confidence interval = 0.752 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: 0.705 AC: 107161 AN: 152056 Hom.: 37951 Cov.: 33

Gnomad AFR AF: 0.759

Gnomad AMI AF: 0.749

Gnomad AMR AF: 0.743

Gnomad ASJ AF: 0.740

Gnomad EAS AF: 0.648

Gnomad SAS AF: 0.700

Gnomad FIN AF: 0.639

Gnomad MID AF: 0.848

Gnomad NFE AF: 0.674

Gnomad OTH AF: 0.736

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

GnomAD4 genome AF: 0.705 AC: 107255 AN: 152174 Hom.: 37986 Cov.: 33 AF XY: 0.704 AC XY: 52378 AN XY: 74384

African (AFR) AF: 0.759 AC: 31517 AN: 41528

American (AMR) AF: 0.743 AC: 11359 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.740 AC: 2569 AN: 3470

East Asian (EAS) AF: 0.648 AC: 3355 AN: 5178

South Asian (SAS) AF: 0.700 AC: 3380 AN: 4826

European-Finnish (FIN) AF: 0.639 AC: 6746 AN: 10562

Middle Eastern (MID) AF: 0.840 AC: 247 AN: 294

European-Non Finnish (NFE) AF: 0.674 AC: 45837 AN: 68002

Other (OTH) AF: 0.740 AC: 1562 AN: 2112

Alfa AF: 0.688 Hom.: 139055

Bravo AF: 0.713

Asia WGS AF: 0.673 AC: 2341 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	1.5
DANN	Benign	0.23
PhyloP100		0.051

Splicing

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

Other links and lift over

dbSNP: rs7276171; hg19: chr21-34463638;