rs1634508

Positions:

• chr17-36098851-C-A
• chr17-36098851-C-G

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 0.198 in 152,090 control chromosomes in the GnomAD database, including 3,245 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 (3245 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.799

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.303 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.198 AC: 30067 AN: 151972 Hom.: 3240 Cov.: 32

Gnomad AFR AF: 0.116

Gnomad AMI AF: 0.315

Gnomad AMR AF: 0.198

Gnomad ASJ AF: 0.174

Gnomad EAS AF: 0.316

Gnomad SAS AF: 0.239

Gnomad FIN AF: 0.163

Gnomad MID AF: 0.185

Gnomad NFE AF: 0.241

Gnomad OTH AF: 0.201

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

GnomAD4 genome AF: 0.198 AC: 30074 AN: 152090 Hom.: 3245 Cov.: 32 AF XY: 0.195 AC XY: 14483 AN XY: 74354

Gnomad4 AFR AF: 0.117

Gnomad4 AMR AF: 0.197

Gnomad4 ASJ AF: 0.174

Gnomad4 EAS AF: 0.316

Gnomad4 SAS AF: 0.239

Gnomad4 FIN AF: 0.163

Gnomad4 NFE AF: 0.241

Gnomad4 OTH AF: 0.198

Alfa AF: 0.230 Hom.: 2444

Bravo AF: 0.200

Asia WGS AF: 0.301 AC: 1045 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.33
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1634508; hg19: chr17-34426245;