chr8-127492252-T-C

Position:

• chr8-127492252-T-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 0.392 in 152,018 control chromosomes in the GnomAD database, including 12,268 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 0.39 (12268 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0360

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 (AFR) allele frequency at 95% confidence interval = 0.494 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: 0.391 AC: 59445 AN: 151900 Hom.: 12242 Cov.: 32

Gnomad AFR AF: 0.499

Gnomad AMI AF: 0.270

Gnomad AMR AF: 0.342

Gnomad ASJ AF: 0.349

Gnomad EAS AF: 0.115

Gnomad SAS AF: 0.365

Gnomad FIN AF: 0.269

Gnomad MID AF: 0.326

Gnomad NFE AF: 0.383

Gnomad OTH AF: 0.377

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

GnomAD4 genome AF: 0.392 AC: 59522 AN: 152018 Hom.: 12268 Cov.: 32 AF XY: 0.384 AC XY: 28549 AN XY: 74288

Gnomad4 AFR AF: 0.500

Gnomad4 AMR AF: 0.341

Gnomad4 ASJ AF: 0.349

Gnomad4 EAS AF: 0.116

Gnomad4 SAS AF: 0.366

Gnomad4 FIN AF: 0.269

Gnomad4 NFE AF: 0.383

Gnomad4 OTH AF: 0.376

Alfa AF: 0.373 Hom.: 10023

Bravo AF: 0.395

Asia WGS AF: 0.252 AC: 880 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.4
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17766217; hg19: chr8-128504497;