rs1868841

Variant names:

• chr8-57451444-A-G
• rs1868841

Your query was ambiguous. Multiple possible variants found:

• chr8-57451444-A-G
• chr8-57451444-A-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 0.614 in 151,886 control chromosomes in the GnomAD database, including 30,835 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 0.61 (30835 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.601
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.862 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: 0.613 AC: 93092 AN: 151768 Hom.: 30775 Cov.: 33

Gnomad AFR AF: 0.869

Gnomad AMI AF: 0.567

Gnomad AMR AF: 0.544

Gnomad ASJ AF: 0.565

Gnomad EAS AF: 0.715

Gnomad SAS AF: 0.654

Gnomad FIN AF: 0.501

Gnomad MID AF: 0.519

Gnomad NFE AF: 0.485

Gnomad OTH AF: 0.592

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

GnomAD4 genome AF: 0.614 AC: 93213 AN: 151886 Hom.: 30835 Cov.: 33 AF XY: 0.614 AC XY: 45626 AN XY: 74252

African (AFR) AF: 0.869 AC: 35866 AN: 41252

American (AMR) AF: 0.544 AC: 8312 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.565 AC: 1959 AN: 3468

East Asian (EAS) AF: 0.715 AC: 3701 AN: 5178

South Asian (SAS) AF: 0.653 AC: 3149 AN: 4822

European-Finnish (FIN) AF: 0.501 AC: 5301 AN: 10586

Middle Eastern (MID) AF: 0.507 AC: 149 AN: 294

European-Non Finnish (NFE) AF: 0.485 AC: 33004 AN: 67994

Other (OTH) AF: 0.596 AC: 1255 AN: 2106

Alfa AF: 0.525 Hom.: 36931

Bravo AF: 0.623

Asia WGS AF: 0.689 AC: 2398 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	0.10
DANN	Benign	0.42
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs1868841; hg19: chr8-58364003;