rs180097

Variant names:

• chr17-69944362-G-A
• rs180097

Your query was ambiguous. Multiple possible variants found:

• chr17-69944362-G-A
• chr17-69944362-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 0.222 in 152,046 control chromosomes in the GnomAD database, including 4,764 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 0.22 (4764 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.52

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.514 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: 0.222 AC: 33716 AN: 151930 Hom.: 4770 Cov.: 32

Gnomad AFR AF: 0.0577

Gnomad AMI AF: 0.306

Gnomad AMR AF: 0.306

Gnomad ASJ AF: 0.270

Gnomad EAS AF: 0.530

Gnomad SAS AF: 0.266

Gnomad FIN AF: 0.315

Gnomad MID AF: 0.323

Gnomad NFE AF: 0.257

Gnomad OTH AF: 0.263

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

GnomAD4 genome AF: 0.222 AC: 33711 AN: 152046 Hom.: 4764 Cov.: 32 AF XY: 0.228 AC XY: 16943 AN XY: 74326

Gnomad4 AFR AF: 0.0575

Gnomad4 AMR AF: 0.306

Gnomad4 ASJ AF: 0.270

Gnomad4 EAS AF: 0.531

Gnomad4 SAS AF: 0.266

Gnomad4 FIN AF: 0.315

Gnomad4 NFE AF: 0.257

Gnomad4 OTH AF: 0.265

Alfa AF: 0.119 Hom.: 213

Bravo AF: 0.220

Asia WGS AF: 0.365 AC: 1268 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.054
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: rs180097; hg19: chr17-67940503;