6-166292681-A-G

Position:

• chr6-166292681-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 0.651 in 152,164 control chromosomes in the GnomAD database, including 32,755 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 0.65 (32755 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.416

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 (EAS) allele frequency at 95% confidence interval = 0.882 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.651 AC: 98953 AN: 152046 Hom.: 32712 Cov.: 34

Gnomad AFR AF: 0.712

Gnomad AMI AF: 0.680

Gnomad AMR AF: 0.611

Gnomad ASJ AF: 0.776

Gnomad EAS AF: 0.904

Gnomad SAS AF: 0.733

Gnomad FIN AF: 0.571

Gnomad MID AF: 0.741

Gnomad NFE AF: 0.602

Gnomad OTH AF: 0.679

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

GnomAD4 genome AF: 0.651 AC: 99053 AN: 152164 Hom.: 32755 Cov.: 34 AF XY: 0.652 AC XY: 48519 AN XY: 74388

Gnomad4 AFR AF: 0.712

Gnomad4 AMR AF: 0.611

Gnomad4 ASJ AF: 0.776

Gnomad4 EAS AF: 0.904

Gnomad4 SAS AF: 0.731

Gnomad4 FIN AF: 0.571

Gnomad4 NFE AF: 0.602

Gnomad4 OTH AF: 0.682

Alfa AF: 0.625 Hom.: 25758

Bravo AF: 0.656

Asia WGS AF: 0.806 AC: 2804 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	1.3
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6915183; hg19: chr6-166706169; COSMIC: COSV64568418;