rs17576279

Variant names:

• chr7-17618976-G-A
• rs17576279

Your query was ambiguous. Multiple possible variants found:

• chr7-17618976-G-A
• chr7-17618976-G-C

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 0.0423 in 152,228 control chromosomes in the GnomAD database, including 209 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 0.042 (209 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.18
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0669 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: 0.0423 AC: 6437 AN: 152110 Hom.: 209 Cov.: 32

Gnomad AFR AF: 0.0109

Gnomad AMI AF: 0.0439

Gnomad AMR AF: 0.0400

Gnomad ASJ AF: 0.0331

Gnomad EAS AF: 0.000192

Gnomad SAS AF: 0.0193

Gnomad FIN AF: 0.0334

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.0685

Gnomad OTH AF: 0.0469

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

GnomAD4 genome AF: 0.0423 AC: 6435 AN: 152228 Hom.: 209 Cov.: 32 AF XY: 0.0403 AC XY: 3002 AN XY: 74428

African (AFR) AF: 0.0109 AC: 452 AN: 41536

American (AMR) AF: 0.0399 AC: 609 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.0331 AC: 115 AN: 3472

East Asian (EAS) AF: 0.000193 AC: 1 AN: 5188

South Asian (SAS) AF: 0.0193 AC: 93 AN: 4820

European-Finnish (FIN) AF: 0.0334 AC: 354 AN: 10594

Middle Eastern (MID) AF: 0.0442 AC: 13 AN: 294

European-Non Finnish (NFE) AF: 0.0685 AC: 4661 AN: 68018

Other (OTH) AF: 0.0459 AC: 97 AN: 2112

Alfa AF: 0.0490 Hom.: 90

Bravo AF: 0.0417

Asia WGS AF: 0.0140 AC: 49 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.24
DANN	Benign	0.62
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs17576279; hg19: chr7-17658600;