rs17526278

Variant names:

• chr19-50854631-G-A
• rs17526278

Your query was ambiguous. Multiple possible variants found:

• chr19-50854631-G-A
• chr19-50854631-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 0.142 in 151,920 control chromosomes in the GnomAD database, including 2,085 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 0.14 (2085 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.42

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.268 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: 0.142 AC: 21489 AN: 151802 Hom.: 2079 Cov.: 30

Gnomad AFR AF: 0.272

Gnomad AMI AF: 0.178

Gnomad AMR AF: 0.110

Gnomad ASJ AF: 0.101

Gnomad EAS AF: 0.0741

Gnomad SAS AF: 0.0482

Gnomad FIN AF: 0.0484

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.0971

Gnomad OTH AF: 0.145

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

GnomAD4 genome AF: 0.142 AC: 21517 AN: 151920 Hom.: 2085 Cov.: 30 AF XY: 0.138 AC XY: 10245 AN XY: 74284

Gnomad4 AFR AF: 0.272 AC: 0.272408 AN: 0.272408

Gnomad4 AMR AF: 0.110 AC: 0.109948 AN: 0.109948

Gnomad4 ASJ AF: 0.101 AC: 0.101382 AN: 0.101382

Gnomad4 EAS AF: 0.0743 AC: 0.0743112 AN: 0.0743112

Gnomad4 SAS AF: 0.0478 AC: 0.0477972 AN: 0.0477972

Gnomad4 FIN AF: 0.0484 AC: 0.0484054 AN: 0.0484054

Gnomad4 NFE AF: 0.0971 AC: 0.0971037 AN: 0.0971037

Gnomad4 OTH AF: 0.144 AC: 0.143738 AN: 0.143738

Alfa AF: 0.0983 Hom.: 369

Bravo AF: 0.155

Asia WGS AF: 0.0730 AC: 255 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.10
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17526278; hg19: chr19-51357887;