6-36665292-A-G

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 0.644 in 151,930 control chromosomes in the GnomAD database, including 31,779 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 0.64 (31779 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.424

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.702 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: 0.644 AC: 97835 AN: 151812 Hom.: 31754 Cov.: 31

Gnomad AFR AF: 0.621

Gnomad AMI AF: 0.799

Gnomad AMR AF: 0.678

Gnomad ASJ AF: 0.440

Gnomad EAS AF: 0.722

Gnomad SAS AF: 0.617

Gnomad FIN AF: 0.678

Gnomad MID AF: 0.513

Gnomad NFE AF: 0.653

Gnomad OTH AF: 0.595

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

GnomAD4 genome AF: 0.644 AC: 97896 AN: 151930 Hom.: 31779 Cov.: 31 AF XY: 0.644 AC XY: 47860 AN XY: 74260

Gnomad4 AFR AF: 0.620

Gnomad4 AMR AF: 0.679

Gnomad4 ASJ AF: 0.440

Gnomad4 EAS AF: 0.721

Gnomad4 SAS AF: 0.617

Gnomad4 FIN AF: 0.678

Gnomad4 NFE AF: 0.653

Gnomad4 OTH AF: 0.589

Alfa AF: 0.627 Hom.: 15183

Bravo AF: 0.646

Asia WGS AF: 0.639 AC: 2220 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	1.1
Dann	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4713999; hg19: chr6-36633069;