chr17-36106925-G-A

Position:

• chr17-36106925-G-A

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 0.0452 in 152,268 control chromosomes in the GnomAD database, including 203 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 0.045 (203 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.826

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0518 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.0451 AC: 6868 AN: 152150 Hom.: 202 Cov.: 32

Gnomad AFR AF: 0.0534

Gnomad AMI AF: 0.0515

Gnomad AMR AF: 0.0343

Gnomad ASJ AF: 0.0657

Gnomad EAS AF: 0.000193

Gnomad SAS AF: 0.0565

Gnomad FIN AF: 0.0232

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0474

Gnomad OTH AF: 0.0478

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

GnomAD4 genome AF: 0.0452 AC: 6879 AN: 152268 Hom.: 203 Cov.: 32 AF XY: 0.0430 AC XY: 3203 AN XY: 74472

Gnomad4 AFR AF: 0.0535

Gnomad4 AMR AF: 0.0342

Gnomad4 ASJ AF: 0.0657

Gnomad4 EAS AF: 0.000193

Gnomad4 SAS AF: 0.0574

Gnomad4 FIN AF: 0.0232

Gnomad4 NFE AF: 0.0474

Gnomad4 OTH AF: 0.0473

Alfa AF: 0.0484 Hom.: 57

Bravo AF: 0.0454

Asia WGS AF: 0.0240 AC: 85 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	3.9
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: rs17679451; hg19: chr17-34434318;