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. The variant received -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
• Publications: 10 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.531 AC: 22002 AN: 41466

American (AMR) AF: 0.745 AC: 11384 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.625 AC: 2169 AN: 3470

East Asian (EAS) AF: 0.614 AC: 3175 AN: 5168

South Asian (SAS) AF: 0.671 AC: 3230 AN: 4814

European-Finnish (FIN) AF: 0.608 AC: 6433 AN: 10576

Middle Eastern (MID) AF: 0.677 AC: 199 AN: 294

European-Non Finnish (NFE) AF: 0.640 AC: 43487 AN: 67974

Other (OTH) AF: 0.645 AC: 1363 AN: 2112

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
PhyloP100		0.098

Splicing

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

Other links and lift over

dbSNP: rs7170178; hg19: chr15-60633854;