8-27589383-C-G

Variant names:

• chr8-27589383-C-G
• rs10503813

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 0.214 in 152,194 control chromosomes in the GnomAD database, including 3,724 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 0.21 (3724 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.11
• Publications: 3 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 (NFE) allele frequency at 95% confidence interval = 0.259 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: 0.214 AC: 32530 AN: 152076 Hom.: 3724 Cov.: 33

Gnomad AFR AF: 0.131

Gnomad AMI AF: 0.252

Gnomad AMR AF: 0.229

Gnomad ASJ AF: 0.292

Gnomad EAS AF: 0.192

Gnomad SAS AF: 0.247

Gnomad FIN AF: 0.171

Gnomad MID AF: 0.212

Gnomad NFE AF: 0.262

Gnomad OTH AF: 0.240

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

GnomAD4 genome AF: 0.214 AC: 32555 AN: 152194 Hom.: 3724 Cov.: 33 AF XY: 0.211 AC XY: 15716 AN XY: 74402

African (AFR) AF: 0.131 AC: 5449 AN: 41544

American (AMR) AF: 0.229 AC: 3496 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.292 AC: 1011 AN: 3468

East Asian (EAS) AF: 0.192 AC: 993 AN: 5164

South Asian (SAS) AF: 0.248 AC: 1197 AN: 4830

European-Finnish (FIN) AF: 0.171 AC: 1809 AN: 10604

Middle Eastern (MID) AF: 0.207 AC: 61 AN: 294

European-Non Finnish (NFE) AF: 0.262 AC: 17807 AN: 67988

Other (OTH) AF: 0.238 AC: 502 AN: 2108

Alfa AF: 0.108 Hom.: 173

Bravo AF: 0.215

Asia WGS AF: 0.234 AC: 813 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	0.048
DANN	Benign	0.33
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs10503813; hg19: chr8-27446900;