17-44955857-G-A

Position:

• chr17-44955857-G-A

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.187 in 152,028 control chromosomes in the GnomAD database, including 2,842 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 0.19 (2842 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.793

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.31).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.256 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: 0.187 AC: 28375 AN: 151910 Hom.: 2839 Cov.: 31

Gnomad AFR AF: 0.259

Gnomad AMI AF: 0.0976

Gnomad AMR AF: 0.123

Gnomad ASJ AF: 0.193

Gnomad EAS AF: 0.00831

Gnomad SAS AF: 0.168

Gnomad FIN AF: 0.130

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.182

Gnomad OTH AF: 0.188

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

GnomAD4 genome AF: 0.187 AC: 28394 AN: 152028 Hom.: 2842 Cov.: 31 AF XY: 0.181 AC XY: 13430 AN XY: 74322

Gnomad4 AFR AF: 0.260

Gnomad4 AMR AF: 0.123

Gnomad4 ASJ AF: 0.193

Gnomad4 EAS AF: 0.00833

Gnomad4 SAS AF: 0.168

Gnomad4 FIN AF: 0.130

Gnomad4 NFE AF: 0.181

Gnomad4 OTH AF: 0.185

Alfa AF: 0.180 Hom.: 5162

Bravo AF: 0.188

Asia WGS AF: 0.101 AC: 352 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.31
CADD	Benign	17
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8073976; hg19: chr17-43033225;