8-20010875-A-C

Variant names:

• chr8-20010875-A-C
• rs1441756

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 0.227 in 151,956 control chromosomes in the GnomAD database, including 4,059 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 0.23 (4059 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.332
• Publications: 34 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.74).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.265 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: 0.227 AC: 34436 AN: 151838 Hom.: 4061 Cov.: 32

Gnomad AFR AF: 0.146

Gnomad AMI AF: 0.382

Gnomad AMR AF: 0.232

Gnomad ASJ AF: 0.302

Gnomad EAS AF: 0.206

Gnomad SAS AF: 0.213

Gnomad FIN AF: 0.246

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.268

Gnomad OTH AF: 0.232

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

GnomAD4 genome AF: 0.227 AC: 34430 AN: 151956 Hom.: 4059 Cov.: 32 AF XY: 0.226 AC XY: 16748 AN XY: 74244

African (AFR) AF: 0.146 AC: 6056 AN: 41498

American (AMR) AF: 0.232 AC: 3538 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.302 AC: 1047 AN: 3468

East Asian (EAS) AF: 0.205 AC: 1059 AN: 5158

South Asian (SAS) AF: 0.213 AC: 1026 AN: 4814

European-Finnish (FIN) AF: 0.246 AC: 2601 AN: 10558

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.268 AC: 18188 AN: 67886

Other (OTH) AF: 0.232 AC: 490 AN: 2108

Alfa AF: 0.249 Hom.: 14567

Bravo AF: 0.222

Asia WGS AF: 0.224 AC: 778 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.74
CADD	Benign	8.6
DANN	Benign	0.86
PhyloP100		0.33

Splicing

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

Other links and lift over

dbSNP: rs1441756; hg19: chr8-19868386;