rs8112555

chr19-7739629-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.739 in 151,644 control chromosomes in the GnomAD database, including 43,274 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 0.74 (43274 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.918

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.842 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: 0.740 AC: 112062 AN: 151524 Hom.: 43257 Cov.: 31

Gnomad AFR AF: 0.490

Gnomad AMI AF: 0.787

Gnomad AMR AF: 0.808

Gnomad ASJ AF: 0.845

Gnomad EAS AF: 0.679

Gnomad SAS AF: 0.787

Gnomad FIN AF: 0.880

Gnomad MID AF: 0.844

Gnomad NFE AF: 0.848

Gnomad OTH AF: 0.777

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

GnomAD4 genome AF: 0.739 AC: 112115 AN: 151644 Hom.: 43274 Cov.: 31 AF XY: 0.741 AC XY: 54906 AN XY: 74120

Gnomad4 AFR AF: 0.489

Gnomad4 AMR AF: 0.809

Gnomad4 ASJ AF: 0.845

Gnomad4 EAS AF: 0.680

Gnomad4 SAS AF: 0.789

Gnomad4 FIN AF: 0.880

Gnomad4 NFE AF: 0.848

Gnomad4 OTH AF: 0.779

Alfa AF: 0.788 Hom.: 6048

Bravo AF: 0.725

Asia WGS AF: 0.735 AC: 2556 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
Cadd	Benign	0.061
Dann	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8112555; hg19: chr19-7804515;