8-42691568-A-G

Variant names:

• chr8-42691568-A-G
• rs1451240

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 0.65 in 152,156 control chromosomes in the GnomAD database, including 34,950 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 0.65 (34950 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.16
• Publications: 33 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.786 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: 0.650 AC: 98865 AN: 152038 Hom.: 34937 Cov.: 32

Gnomad AFR AF: 0.351

Gnomad AMI AF: 0.818

Gnomad AMR AF: 0.717

Gnomad ASJ AF: 0.705

Gnomad EAS AF: 0.806

Gnomad SAS AF: 0.711

Gnomad FIN AF: 0.760

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.778

Gnomad OTH AF: 0.682

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

GnomAD4 genome AF: 0.650 AC: 98906 AN: 152156 Hom.: 34950 Cov.: 32 AF XY: 0.654 AC XY: 48682 AN XY: 74398

African (AFR) AF: 0.351 AC: 14568 AN: 41504

American (AMR) AF: 0.717 AC: 10958 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.705 AC: 2448 AN: 3470

East Asian (EAS) AF: 0.807 AC: 4170 AN: 5168

South Asian (SAS) AF: 0.712 AC: 3424 AN: 4812

European-Finnish (FIN) AF: 0.760 AC: 8045 AN: 10588

Middle Eastern (MID) AF: 0.704 AC: 207 AN: 294

European-Non Finnish (NFE) AF: 0.778 AC: 52897 AN: 68002

Other (OTH) AF: 0.683 AC: 1443 AN: 2114

Alfa AF: 0.738 Hom.: 134618

Bravo AF: 0.632

Asia WGS AF: 0.711 AC: 2471 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.28
DANN	Benign	0.17
PhyloP100		-3.2

Splicing

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

Other links and lift over

dbSNP: rs1451240; hg19: chr8-42546711;