rs7170178

Variant names:

• chr15-60341655-G-A
• rs7170178

Your query was ambiguous. Multiple possible variants found:

• chr15-60341655-G-A
• chr15-60341655-G-C
• chr15-60341655-G-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 0.619 in 152,070 control chromosomes in the GnomAD database, including 29,576 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 0.62 (29576 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0980

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.733 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: 0.619 AC: 94045 AN: 151952 Hom.: 29557 Cov.: 32

Gnomad AFR AF: 0.531

Gnomad AMI AF: 0.732

Gnomad AMR AF: 0.744

Gnomad ASJ AF: 0.625

Gnomad EAS AF: 0.614

Gnomad SAS AF: 0.670

Gnomad FIN AF: 0.608

Gnomad MID AF: 0.668

Gnomad NFE AF: 0.640

Gnomad OTH AF: 0.642

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

GnomAD4 genome AF: 0.619 AC: 94107 AN: 152070 Hom.: 29576 Cov.: 32 AF XY: 0.621 AC XY: 46170 AN XY: 74334

Gnomad4 AFR AF: 0.531

Gnomad4 AMR AF: 0.745

Gnomad4 ASJ AF: 0.625

Gnomad4 EAS AF: 0.614

Gnomad4 SAS AF: 0.671

Gnomad4 FIN AF: 0.608

Gnomad4 NFE AF: 0.640

Gnomad4 OTH AF: 0.645

Alfa AF: 0.561 Hom.: 2077

Bravo AF: 0.628

Asia WGS AF: 0.647 AC: 2252 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.8
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7170178; hg19: chr15-60633854;