rs1834413

Variant names:

• chr8-56724674-G-A
• rs1834413

Your query was ambiguous. Multiple possible variants found:

• chr8-56724674-G-A
• chr8-56724674-G-C
• chr8-56724674-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 0.589 in 151,908 control chromosomes in the GnomAD database, including 27,615 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 0.59 (27615 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.118
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.76).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.843 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: 0.589 AC: 89412 AN: 151790 Hom.: 27577 Cov.: 31

Gnomad AFR AF: 0.763

Gnomad AMI AF: 0.671

Gnomad AMR AF: 0.492

Gnomad ASJ AF: 0.447

Gnomad EAS AF: 0.865

Gnomad SAS AF: 0.604

Gnomad FIN AF: 0.513

Gnomad MID AF: 0.475

Gnomad NFE AF: 0.503

Gnomad OTH AF: 0.542

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

GnomAD4 genome AF: 0.589 AC: 89505 AN: 151908 Hom.: 27615 Cov.: 31 AF XY: 0.589 AC XY: 43735 AN XY: 74228

African (AFR) AF: 0.764 AC: 31662 AN: 41458

American (AMR) AF: 0.491 AC: 7488 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.447 AC: 1550 AN: 3466

East Asian (EAS) AF: 0.865 AC: 4470 AN: 5170

South Asian (SAS) AF: 0.602 AC: 2897 AN: 4816

European-Finnish (FIN) AF: 0.513 AC: 5389 AN: 10508

Middle Eastern (MID) AF: 0.480 AC: 141 AN: 294

European-Non Finnish (NFE) AF: 0.503 AC: 34143 AN: 67936

Other (OTH) AF: 0.547 AC: 1153 AN: 2106

Alfa AF: 0.518 Hom.: 35232

Bravo AF: 0.591

Asia WGS AF: 0.739 AC: 2568 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.76
CADD	Benign	3.4
DANN	Benign	0.65
PhyloP100		0.12

Splicing

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

Other links and lift over

dbSNP: rs1834413; hg19: chr8-57637233;