rs206767

Variant names:

• chr6-32994643-C-A
• rs206767

Your query was ambiguous. Multiple possible variants found:

• chr6-32994643-C-A
• chr6-32994643-C-G
• chr6-32994643-C-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 0.517 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
• Publications: 21 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.527 AC: 21806 AN: 41362

American (AMR) AF: 0.415 AC: 6335 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.554 AC: 1922 AN: 3470

East Asian (EAS) AF: 0.427 AC: 2204 AN: 5160

South Asian (SAS) AF: 0.430 AC: 2074 AN: 4820

European-Finnish (FIN) AF: 0.613 AC: 6434 AN: 10500

Middle Eastern (MID) AF: 0.606 AC: 177 AN: 292

European-Non Finnish (NFE) AF: 0.530 AC: 36039 AN: 67966

Other (OTH) AF: 0.490 AC: 1029 AN: 2098

Alfa AF: 0.528 Hom.: 63041

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
PhyloP100		-0.65

Splicing

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

Other links and lift over

dbSNP: rs206767; hg19: chr6-32962420;