chr8-83073061-C-T

Position:

• chr8-83073061-C-T

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 0.888 in 152,260 control chromosomes in the GnomAD database, including 60,165 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 0.89 (60165 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.627

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.898 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: 0.888 AC: 135121 AN: 152140 Hom.: 60119 Cov.: 33

Gnomad AFR AF: 0.906

Gnomad AMI AF: 0.834

Gnomad AMR AF: 0.872

Gnomad ASJ AF: 0.785

Gnomad EAS AF: 0.844

Gnomad SAS AF: 0.855

Gnomad FIN AF: 0.933

Gnomad MID AF: 0.895

Gnomad NFE AF: 0.886

Gnomad OTH AF: 0.881

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

GnomAD4 genome AF: 0.888 AC: 135224 AN: 152260 Hom.: 60165 Cov.: 33 AF XY: 0.889 AC XY: 66163 AN XY: 74444

Gnomad4 AFR AF: 0.905

Gnomad4 AMR AF: 0.872

Gnomad4 ASJ AF: 0.785

Gnomad4 EAS AF: 0.843

Gnomad4 SAS AF: 0.855

Gnomad4 FIN AF: 0.933

Gnomad4 NFE AF: 0.886

Gnomad4 OTH AF: 0.881

Alfa AF: 0.881 Hom.: 27773

Bravo AF: 0.884

Asia WGS AF: 0.869 AC: 3022 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.8
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4739919; hg19: chr8-83985296;