rs8102595

Variant names:

• chr19-46294573-G-A
• rs8102595

Your query was ambiguous. Multiple possible variants found:

• chr19-46294573-G-A
• chr19-46294573-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 0.876 in 152,176 control chromosomes in the GnomAD database, including 58,573 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 0.88 (58573 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.23
• Publications: 14 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.898 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: 0.876 AC: 133182 AN: 152058 Hom.: 58525 Cov.: 31

Gnomad AFR AF: 0.862

Gnomad AMI AF: 0.827

Gnomad AMR AF: 0.847

Gnomad ASJ AF: 0.834

Gnomad EAS AF: 0.779

Gnomad SAS AF: 0.755

Gnomad FIN AF: 0.915

Gnomad MID AF: 0.826

Gnomad NFE AF: 0.904

Gnomad OTH AF: 0.873

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

GnomAD4 genome AF: 0.876 AC: 133285 AN: 152176 Hom.: 58573 Cov.: 31 AF XY: 0.873 AC XY: 64964 AN XY: 74408

African (AFR) AF: 0.862 AC: 35778 AN: 41504

American (AMR) AF: 0.846 AC: 12922 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.834 AC: 2894 AN: 3470

East Asian (EAS) AF: 0.780 AC: 4035 AN: 5172

South Asian (SAS) AF: 0.754 AC: 3633 AN: 4816

European-Finnish (FIN) AF: 0.915 AC: 9701 AN: 10598

Middle Eastern (MID) AF: 0.827 AC: 243 AN: 294

European-Non Finnish (NFE) AF: 0.904 AC: 61477 AN: 68026

Other (OTH) AF: 0.874 AC: 1849 AN: 2116

Alfa AF: 0.892 Hom.: 248282

Bravo AF: 0.873

Asia WGS AF: 0.783 AC: 2723 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.42
DANN	Benign	0.63
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs8102595; hg19: chr19-46797830;