rs1634514

Variant names:

• chr17-36103525-T-A
• rs1634514

Your query was ambiguous. Multiple possible variants found:

• chr17-36103525-T-A
• chr17-36103525-T-C

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 0.196 in 329,076 control chromosomes in the GnomAD database, including 7,143 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 0.18 (2834 hom., cov: 30)
  • Exomes 𝑓: 0.21 (4309 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.172

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.286 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: 0.179 AC: 27071 AN: 151598 Hom.: 2833 Cov.: 30

Gnomad AFR AF: 0.0717

Gnomad AMI AF: 0.297

Gnomad AMR AF: 0.189

Gnomad ASJ AF: 0.155

Gnomad EAS AF: 0.300

Gnomad SAS AF: 0.224

Gnomad FIN AF: 0.157

Gnomad MID AF: 0.180

Gnomad NFE AF: 0.232

Gnomad OTH AF: 0.184

GnomAD4 exome AF: 0.210 AC: 37268 AN: 177360 Hom.: 4309 AF XY: 0.209 AC XY: 20001 AN XY: 95494

Gnomad4 AFR exome AF: 0.0667

Gnomad4 AMR exome AF: 0.191

Gnomad4 ASJ exome AF: 0.171

Gnomad4 EAS exome AF: 0.285

Gnomad4 SAS exome AF: 0.204

Gnomad4 FIN exome AF: 0.160

Gnomad4 NFE exome AF: 0.222

Gnomad4 OTH exome AF: 0.197

GnomAD4 genome AF: 0.178 AC: 27077 AN: 151716 Hom.: 2834 Cov.: 30 AF XY: 0.176 AC XY: 13065 AN XY: 74098

Gnomad4 AFR AF: 0.0719

Gnomad4 AMR AF: 0.188

Gnomad4 ASJ AF: 0.155

Gnomad4 EAS AF: 0.299

Gnomad4 SAS AF: 0.225

Gnomad4 FIN AF: 0.157

Gnomad4 NFE AF: 0.232

Gnomad4 OTH AF: 0.182

Alfa AF: 0.199 Hom.: 415

Bravo AF: 0.179

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.3
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1634514; hg19: chr17-34430918;