8-48499856-T-C

Position:

• chr8-48499856-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 0.232 in 152,006 control chromosomes in the GnomAD database, including 4,685 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 (4685 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0330

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 = 0.344 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.232 AC: 35312 AN: 151888 Hom.: 4678 Cov.: 32

Gnomad AFR AF: 0.349

Gnomad AMI AF: 0.384

Gnomad AMR AF: 0.210

Gnomad ASJ AF: 0.344

Gnomad EAS AF: 0.245

Gnomad SAS AF: 0.258

Gnomad FIN AF: 0.123

Gnomad MID AF: 0.241

Gnomad NFE AF: 0.173

Gnomad OTH AF: 0.255

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

GnomAD4 genome AF: 0.232 AC: 35341 AN: 152006 Hom.: 4685 Cov.: 32 AF XY: 0.231 AC XY: 17195 AN XY: 74332

Gnomad4 AFR AF: 0.349

Gnomad4 AMR AF: 0.210

Gnomad4 ASJ AF: 0.344

Gnomad4 EAS AF: 0.245

Gnomad4 SAS AF: 0.259

Gnomad4 FIN AF: 0.123

Gnomad4 NFE AF: 0.173

Gnomad4 OTH AF: 0.255

Alfa AF: 0.203 Hom.: 437

Bravo AF: 0.244

Asia WGS AF: 0.291 AC: 1011 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.8
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7016759; hg19: chr8-49412416;