6-166292681-A-G

Variant names:

• chr6-166292681-A-G
• rs6915183

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;