chr8-63041520-A-C

Position:

• chr8-63041520-A-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.273 in 152,140 control chromosomes in the GnomAD database, including 5,848 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 0.27 (5848 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.429

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.37 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.273 AC: 41452 AN: 152020 Hom.: 5838 Cov.: 33

Gnomad AFR AF: 0.251

Gnomad AMI AF: 0.211

Gnomad AMR AF: 0.209

Gnomad ASJ AF: 0.243

Gnomad EAS AF: 0.140

Gnomad SAS AF: 0.384

Gnomad FIN AF: 0.346

Gnomad MID AF: 0.269

Gnomad NFE AF: 0.294

Gnomad OTH AF: 0.247

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

GnomAD4 genome AF: 0.273 AC: 41490 AN: 152140 Hom.: 5848 Cov.: 33 AF XY: 0.274 AC XY: 20353 AN XY: 74370

Gnomad4 AFR AF: 0.251

Gnomad4 AMR AF: 0.209

Gnomad4 ASJ AF: 0.243

Gnomad4 EAS AF: 0.140

Gnomad4 SAS AF: 0.384

Gnomad4 FIN AF: 0.346

Gnomad4 NFE AF: 0.294

Gnomad4 OTH AF: 0.255

Alfa AF: 0.293 Hom.: 1323

Bravo AF: 0.257

Asia WGS AF: 0.269 AC: 935 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.6
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10106587; hg19: chr8-63954079;