rs7166081

Variant names:

• chr15-67199963-G-A
• rs7166081

Your query was ambiguous. Multiple possible variants found:

• chr15-67199963-G-A
• chr15-67199963-G-T

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 152,166 control chromosomes in the GnomAD database, including 43,799 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 (43799 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.09
• Publications: 30 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.68).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.794 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: 114941 AN: 152048 Hom.: 43791 Cov.: 32

Gnomad AFR AF: 0.802

Gnomad AMI AF: 0.788

Gnomad AMR AF: 0.666

Gnomad ASJ AF: 0.630

Gnomad EAS AF: 0.489

Gnomad SAS AF: 0.694

Gnomad FIN AF: 0.818

Gnomad MID AF: 0.665

Gnomad NFE AF: 0.770

Gnomad OTH AF: 0.732

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

GnomAD4 genome AF: 0.756 AC: 114988 AN: 152166 Hom.: 43799 Cov.: 32 AF XY: 0.752 AC XY: 55919 AN XY: 74384

African (AFR) AF: 0.801 AC: 33268 AN: 41510

American (AMR) AF: 0.665 AC: 10161 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.630 AC: 2187 AN: 3470

East Asian (EAS) AF: 0.488 AC: 2521 AN: 5164

South Asian (SAS) AF: 0.695 AC: 3355 AN: 4830

European-Finnish (FIN) AF: 0.818 AC: 8674 AN: 10598

Middle Eastern (MID) AF: 0.663 AC: 195 AN: 294

European-Non Finnish (NFE) AF: 0.770 AC: 52377 AN: 67992

Other (OTH) AF: 0.724 AC: 1531 AN: 2114

Alfa AF: 0.759 Hom.: 32974

Bravo AF: 0.745

Asia WGS AF: 0.573 AC: 1994 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.68
CADD	Benign	14
DANN	Benign	0.59
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs7166081; hg19: chr15-67492301;