6-26065393-A-G

Variant names:

• chr6-26065393-A-G
• rs807212

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 0.756 in 152,050 control chromosomes in the GnomAD database, including 44,298 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 0.76 (44298 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.526

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.906 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: 0.756 AC: 114831 AN: 151932 Hom.: 44255 Cov.: 30

Gnomad AFR AF: 0.914

Gnomad AMI AF: 0.651

Gnomad AMR AF: 0.713

Gnomad ASJ AF: 0.714

Gnomad EAS AF: 0.866

Gnomad SAS AF: 0.663

Gnomad FIN AF: 0.678

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.683

Gnomad OTH AF: 0.778

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

GnomAD4 genome AF: 0.756 AC: 114930 AN: 152050 Hom.: 44298 Cov.: 30 AF XY: 0.754 AC XY: 56061 AN XY: 74312

African (AFR) AF: 0.914 AC: 37878 AN: 41454

American (AMR) AF: 0.713 AC: 10883 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.714 AC: 2476 AN: 3470

East Asian (EAS) AF: 0.865 AC: 4486 AN: 5184

South Asian (SAS) AF: 0.662 AC: 3188 AN: 4818

European-Finnish (FIN) AF: 0.678 AC: 7160 AN: 10564

Middle Eastern (MID) AF: 0.704 AC: 207 AN: 294

European-Non Finnish (NFE) AF: 0.683 AC: 46420 AN: 67976

Other (OTH) AF: 0.775 AC: 1638 AN: 2114

Alfa AF: 0.716 Hom.: 17513

Bravo AF: 0.769

Asia WGS AF: 0.739 AC: 2572 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.54
DANN	Benign	0.24
PhyloP100		-0.53

Splicing

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

Publications

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Other links and lift over

dbSNP: rs807212; hg19: chr6-26065621;