8-73757555-G-T

Position:

• chr8-73757555-G-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 0.89 in 151,046 control chromosomes in the GnomAD database, including 59,978 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 (59978 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.42

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.95 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: 0.890 AC: 134345 AN: 150928 Hom.: 59941 Cov.: 26

Gnomad AFR AF: 0.902

Gnomad AMI AF: 0.915

Gnomad AMR AF: 0.804

Gnomad ASJ AF: 0.954

Gnomad EAS AF: 0.973

Gnomad SAS AF: 0.859

Gnomad FIN AF: 0.883

Gnomad MID AF: 0.924

Gnomad NFE AF: 0.895

Gnomad OTH AF: 0.914

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

GnomAD4 genome AF: 0.890 AC: 134436 AN: 151046 Hom.: 59978 Cov.: 26 AF XY: 0.888 AC XY: 65489 AN XY: 73732

Gnomad4 AFR AF: 0.902

Gnomad4 AMR AF: 0.803

Gnomad4 ASJ AF: 0.954

Gnomad4 EAS AF: 0.973

Gnomad4 SAS AF: 0.859

Gnomad4 FIN AF: 0.883

Gnomad4 NFE AF: 0.895

Gnomad4 OTH AF: 0.916

Alfa AF: 0.895 Hom.: 55171

Bravo AF: 0.889

Asia WGS AF: 0.907 AC: 3153 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.43
DANN	Benign	0.30

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs6980645; hg19: chr8-74669790;