rs806366

chr6-88137870-C-T

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 0.578 in 151,954 control chromosomes in the GnomAD database, including 26,566 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 0.58 (26566 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.51

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.761 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: 0.577 AC: 87659 AN: 151836 Hom.: 26525 Cov.: 32

Gnomad AFR AF: 0.768

Gnomad AMI AF: 0.441

Gnomad AMR AF: 0.574

Gnomad ASJ AF: 0.511

Gnomad EAS AF: 0.580

Gnomad SAS AF: 0.469

Gnomad FIN AF: 0.469

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.493

Gnomad OTH AF: 0.548

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

GnomAD4 genome AF: 0.578 AC: 87760 AN: 151954 Hom.: 26566 Cov.: 32 AF XY: 0.574 AC XY: 42629 AN XY: 74274

Gnomad4 AFR AF: 0.768

Gnomad4 AMR AF: 0.574

Gnomad4 ASJ AF: 0.511

Gnomad4 EAS AF: 0.581

Gnomad4 SAS AF: 0.469

Gnomad4 FIN AF: 0.469

Gnomad4 NFE AF: 0.493

Gnomad4 OTH AF: 0.546

Alfa AF: 0.510 Hom.: 27574

Bravo AF: 0.593

Asia WGS AF: 0.530 AC: 1842 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
Cadd	Benign	0.20
Dann	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs806366; hg19: chr6-88847589;