rs2044999

Variant names:

• chr8-113786995-G-A
• rs2044999

Your query was ambiguous. Multiple possible variants found:

• chr8-113786995-G-A
• chr8-113786995-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 0.603 in 151,686 control chromosomes in the GnomAD database, including 28,227 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 0.60 (28227 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.102
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.643 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: 0.603 AC: 91408 AN: 151568 Hom.: 28198 Cov.: 31

Gnomad AFR AF: 0.602

Gnomad AMI AF: 0.780

Gnomad AMR AF: 0.427

Gnomad ASJ AF: 0.624

Gnomad EAS AF: 0.348

Gnomad SAS AF: 0.624

Gnomad FIN AF: 0.663

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.648

Gnomad OTH AF: 0.610

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

GnomAD4 genome AF: 0.603 AC: 91491 AN: 151686 Hom.: 28227 Cov.: 31 AF XY: 0.598 AC XY: 44300 AN XY: 74104

African (AFR) AF: 0.602 AC: 24930 AN: 41428

American (AMR) AF: 0.427 AC: 6498 AN: 15226

Ashkenazi Jewish (ASJ) AF: 0.624 AC: 2162 AN: 3464

East Asian (EAS) AF: 0.348 AC: 1796 AN: 5156

South Asian (SAS) AF: 0.626 AC: 3013 AN: 4816

European-Finnish (FIN) AF: 0.663 AC: 6979 AN: 10534

Middle Eastern (MID) AF: 0.626 AC: 184 AN: 294

European-Non Finnish (NFE) AF: 0.648 AC: 43925 AN: 67742

Other (OTH) AF: 0.612 AC: 1293 AN: 2114

Alfa AF: 0.626 Hom.: 128866

Bravo AF: 0.581

Asia WGS AF: 0.507 AC: 1764 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.5
DANN	Benign	0.60
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs2044999; hg19: chr8-114799224;