8-106237331-T-C

Position:

• chr8-106237331-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 0.554 in 152,084 control chromosomes in the GnomAD database, including 26,216 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 0.55 (26216 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.211

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.72).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.817 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: 0.554 AC: 84172 AN: 151966 Hom.: 26206 Cov.: 33

Gnomad AFR AF: 0.253

Gnomad AMI AF: 0.672

Gnomad AMR AF: 0.609

Gnomad ASJ AF: 0.639

Gnomad EAS AF: 0.837

Gnomad SAS AF: 0.831

Gnomad FIN AF: 0.676

Gnomad MID AF: 0.677

Gnomad NFE AF: 0.656

Gnomad OTH AF: 0.608

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

GnomAD4 genome AF: 0.554 AC: 84206 AN: 152084 Hom.: 26216 Cov.: 33 AF XY: 0.564 AC XY: 41898 AN XY: 74326

Gnomad4 AFR AF: 0.252

Gnomad4 AMR AF: 0.610

Gnomad4 ASJ AF: 0.639

Gnomad4 EAS AF: 0.838

Gnomad4 SAS AF: 0.832

Gnomad4 FIN AF: 0.676

Gnomad4 NFE AF: 0.656

Gnomad4 OTH AF: 0.611

Alfa AF: 0.644 Hom.: 52249

Bravo AF: 0.532

Asia WGS AF: 0.780 AC: 2709 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.72
CADD	Benign	11
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs958630; hg19: chr8-107249559;