17-36047429-C-T

Variant names:

• chr17-36047429-C-T
• rs854633

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 0.644 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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.779 AC: 32348 AN: 41518

American (AMR) AF: 0.640 AC: 9790 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.676 AC: 2345 AN: 3470

East Asian (EAS) AF: 0.545 AC: 2811 AN: 5160

South Asian (SAS) AF: 0.571 AC: 2750 AN: 4818

European-Finnish (FIN) AF: 0.559 AC: 5928 AN: 10598

Middle Eastern (MID) AF: 0.711 AC: 209 AN: 294

European-Non Finnish (NFE) AF: 0.585 AC: 39777 AN: 67952

Other (OTH) AF: 0.641 AC: 1357 AN: 2116

Alfa AF: 0.610 Hom.: 20380

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
PhyloP100		-0.96

Splicing

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

Other links and lift over

dbSNP: rs854633; hg19: chr17-34374462;