17-36047429-C-T

Variant names:

• chr17-36047429-C-T
• rs854633

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 0.644 in 152,132 control chromosomes in the GnomAD database, including 32,170 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 0.64 (32170 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.960

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 (AFR) allele frequency at 95% confidence interval = 0.772 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: 0.643 AC: 97802 AN: 152014 Hom.: 32117 Cov.: 32

Gnomad AFR AF: 0.779

Gnomad AMI AF: 0.657

Gnomad AMR AF: 0.640

Gnomad ASJ AF: 0.676

Gnomad EAS AF: 0.546

Gnomad SAS AF: 0.570

Gnomad FIN AF: 0.559

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.585

Gnomad OTH AF: 0.637

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

GnomAD4 genome AF: 0.644 AC: 97914 AN: 152132 Hom.: 32170 Cov.: 32 AF XY: 0.641 AC XY: 47666 AN XY: 74392

Gnomad4 AFR AF: 0.779

Gnomad4 AMR AF: 0.640

Gnomad4 ASJ AF: 0.676

Gnomad4 EAS AF: 0.545

Gnomad4 SAS AF: 0.571

Gnomad4 FIN AF: 0.559

Gnomad4 NFE AF: 0.585

Gnomad4 OTH AF: 0.641

Alfa AF: 0.609 Hom.: 6899

Bravo AF: 0.657

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs854633; hg19: chr17-34374462;