rs8111895

Variant names:

• chr19-22890403-G-A
• rs8111895

Your query was ambiguous. Multiple possible variants found:

• chr19-22890403-G-A
• chr19-22890403-G-T

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 0.106 in 150,492 control chromosomes in the GnomAD database, including 949 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 0.11 (949 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.20
• Publications: 1 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 = 0.124 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: 0.106 AC: 15899 AN: 150386 Hom.: 945 Cov.: 31

Gnomad AFR AF: 0.0587

Gnomad AMI AF: 0.0702

Gnomad AMR AF: 0.111

Gnomad ASJ AF: 0.108

Gnomad EAS AF: 0.0902

Gnomad SAS AF: 0.111

Gnomad FIN AF: 0.152

Gnomad MID AF: 0.159

Gnomad NFE AF: 0.127

Gnomad OTH AF: 0.113

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

GnomAD4 genome AF: 0.106 AC: 15916 AN: 150492 Hom.: 949 Cov.: 31 AF XY: 0.106 AC XY: 7813 AN XY: 73436

African (AFR) AF: 0.0587 AC: 2395 AN: 40796

American (AMR) AF: 0.111 AC: 1678 AN: 15154

Ashkenazi Jewish (ASJ) AF: 0.108 AC: 372 AN: 3454

East Asian (EAS) AF: 0.0902 AC: 461 AN: 5110

South Asian (SAS) AF: 0.111 AC: 529 AN: 4762

European-Finnish (FIN) AF: 0.152 AC: 1548 AN: 10212

Middle Eastern (MID) AF: 0.160 AC: 47 AN: 294

European-Non Finnish (NFE) AF: 0.127 AC: 8577 AN: 67732

Other (OTH) AF: 0.118 AC: 246 AN: 2080

Alfa AF: 0.120 Hom.: 1957

Bravo AF: 0.101

Asia WGS AF: 0.129 AC: 446 AN: 3462

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.6
DANN	Benign	0.15
PhyloP100		-2.2

Splicing

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

Other links and lift over

dbSNP: rs8111895; hg19: chr19-23073205;