rs7170181

Variant names:

• chr15-85824413-A-G
• rs7170181

Your query was ambiguous. Multiple possible variants found:

• chr15-85824413-A-G
• chr15-85824413-A-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 0.263 in 151,926 control chromosomes in the GnomAD database, including 6,141 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 0.26 (6141 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.46
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.409 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.263 AC: 39912 AN: 151808 Hom.: 6119 Cov.: 31

Gnomad AFR AF: 0.414

Gnomad AMI AF: 0.203

Gnomad AMR AF: 0.317

Gnomad ASJ AF: 0.199

Gnomad EAS AF: 0.325

Gnomad SAS AF: 0.255

Gnomad FIN AF: 0.200

Gnomad MID AF: 0.258

Gnomad NFE AF: 0.169

Gnomad OTH AF: 0.262

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

GnomAD4 genome AF: 0.263 AC: 39990 AN: 151926 Hom.: 6141 Cov.: 31 AF XY: 0.265 AC XY: 19704 AN XY: 74258

African (AFR) AF: 0.414 AC: 17129 AN: 41378

American (AMR) AF: 0.318 AC: 4844 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.199 AC: 691 AN: 3472

East Asian (EAS) AF: 0.326 AC: 1682 AN: 5166

South Asian (SAS) AF: 0.256 AC: 1235 AN: 4822

European-Finnish (FIN) AF: 0.200 AC: 2120 AN: 10576

Middle Eastern (MID) AF: 0.260 AC: 76 AN: 292

European-Non Finnish (NFE) AF: 0.169 AC: 11476 AN: 67962

Other (OTH) AF: 0.262 AC: 553 AN: 2110

Alfa AF: 0.200 Hom.: 13418

Bravo AF: 0.275

Asia WGS AF: 0.297 AC: 1033 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	12
DANN	Benign	0.76
PhyloP100		1.5

Splicing

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

Other links and lift over

dbSNP: rs7170181; hg19: chr15-86367644;