17-36098180-G-T

Variant names:

• chr17-36098180-G-T
• rs1634507

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 0.196 in 152,130 control chromosomes in the GnomAD database, including 3,261 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 0.20 (3261 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.410
• Publications: 11 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 (EAS) allele frequency at 95% confidence interval = 0.299 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: 0.196 AC: 29850 AN: 152012 Hom.: 3258 Cov.: 32

Gnomad AFR AF: 0.107

Gnomad AMI AF: 0.346

Gnomad AMR AF: 0.198

Gnomad ASJ AF: 0.174

Gnomad EAS AF: 0.312

Gnomad SAS AF: 0.253

Gnomad FIN AF: 0.164

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.242

Gnomad OTH AF: 0.203

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

GnomAD4 genome AF: 0.196 AC: 29859 AN: 152130 Hom.: 3261 Cov.: 32 AF XY: 0.194 AC XY: 14459 AN XY: 74372

African (AFR) AF: 0.107 AC: 4445 AN: 41504

American (AMR) AF: 0.197 AC: 3014 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.174 AC: 603 AN: 3470

East Asian (EAS) AF: 0.312 AC: 1614 AN: 5174

South Asian (SAS) AF: 0.253 AC: 1220 AN: 4822

European-Finnish (FIN) AF: 0.164 AC: 1741 AN: 10584

Middle Eastern (MID) AF: 0.207 AC: 61 AN: 294

European-Non Finnish (NFE) AF: 0.242 AC: 16423 AN: 67972

Other (OTH) AF: 0.200 AC: 422 AN: 2108

Alfa AF: 0.187 Hom.: 1041

Bravo AF: 0.198

Asia WGS AF: 0.307 AC: 1068 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	0.38
DANN	Benign	0.62
PhyloP100		-0.41

Splicing

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

Other links and lift over

dbSNP: rs1634507; hg19: chr17-34425574;