6-32984769-G-A

Variant names:

• chr6-32984769-G-A
• rs206777

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 0.655 in 152,158 control chromosomes in the GnomAD database, including 33,605 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 0.65 (33605 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.265
• Publications: 18 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.818 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: 0.655 AC: 99535 AN: 152040 Hom.: 33557 Cov.: 33

Gnomad AFR AF: 0.825

Gnomad AMI AF: 0.516

Gnomad AMR AF: 0.564

Gnomad ASJ AF: 0.619

Gnomad EAS AF: 0.502

Gnomad SAS AF: 0.522

Gnomad FIN AF: 0.630

Gnomad MID AF: 0.649

Gnomad NFE AF: 0.600

Gnomad OTH AF: 0.657

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

GnomAD4 genome AF: 0.655 AC: 99632 AN: 152158 Hom.: 33605 Cov.: 33 AF XY: 0.651 AC XY: 48410 AN XY: 74392

African (AFR) AF: 0.825 AC: 34273 AN: 41520

American (AMR) AF: 0.564 AC: 8623 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.619 AC: 2148 AN: 3472

East Asian (EAS) AF: 0.502 AC: 2598 AN: 5174

South Asian (SAS) AF: 0.522 AC: 2515 AN: 4822

European-Finnish (FIN) AF: 0.630 AC: 6677 AN: 10592

Middle Eastern (MID) AF: 0.656 AC: 193 AN: 294

European-Non Finnish (NFE) AF: 0.600 AC: 40754 AN: 67962

Other (OTH) AF: 0.653 AC: 1381 AN: 2114

Alfa AF: 0.618 Hom.: 74991

Bravo AF: 0.658

Asia WGS AF: 0.557 AC: 1941 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.8
DANN	Benign	0.68
PhyloP100		-0.27

Splicing

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

Other links and lift over

dbSNP: rs206777; hg19: chr6-32952546;