rs206767

chr6-32994643-C-A

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 0.517 in 151,824 control chromosomes in the GnomAD database, including 20,570 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 0.52 (20570 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.647

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.526 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.517 AC: 78400 AN: 151706 Hom.: 20552 Cov.: 31

Gnomad AFR AF: 0.527

Gnomad AMI AF: 0.487

Gnomad AMR AF: 0.416

Gnomad ASJ AF: 0.554

Gnomad EAS AF: 0.427

Gnomad SAS AF: 0.431

Gnomad FIN AF: 0.613

Gnomad MID AF: 0.605

Gnomad NFE AF: 0.530

Gnomad OTH AF: 0.492

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

GnomAD4 genome AF: 0.517 AC: 78462 AN: 151824 Hom.: 20570 Cov.: 31 AF XY: 0.517 AC XY: 38344 AN XY: 74228

Gnomad4 AFR AF: 0.527

Gnomad4 AMR AF: 0.415

Gnomad4 ASJ AF: 0.554

Gnomad4 EAS AF: 0.427

Gnomad4 SAS AF: 0.430

Gnomad4 FIN AF: 0.613

Gnomad4 NFE AF: 0.530

Gnomad4 OTH AF: 0.490

Alfa AF: 0.522 Hom.: 16467

Bravo AF: 0.501

Asia WGS AF: 0.424 AC: 1473 AN: 3462

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.31
Dann	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs206767; hg19: chr6-32962420;