chr17-44955857-G-A

Variant names:

• chr17-44955857-G-A
• rs8073976

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 10 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.260 AC: 10755 AN: 41426

American (AMR) AF: 0.123 AC: 1879 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.193 AC: 671 AN: 3472

East Asian (EAS) AF: 0.00833 AC: 43 AN: 5162

South Asian (SAS) AF: 0.168 AC: 808 AN: 4822

European-Finnish (FIN) AF: 0.130 AC: 1375 AN: 10576

Middle Eastern (MID) AF: 0.173 AC: 51 AN: 294

European-Non Finnish (NFE) AF: 0.181 AC: 12333 AN: 67968

Other (OTH) AF: 0.185 AC: 390 AN: 2110

Alfa AF: 0.182 Hom.: 8411

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
PhyloP100		0.79

Splicing

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

Other links and lift over

dbSNP: rs8073976; hg19: chr17-43033225;