8-75571621-C-T

Position:

• chr8-75571621-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 0.663 in 152,026 control chromosomes in the GnomAD database, including 34,812 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 0.66 (34812 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.10

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 (AFR) allele frequency at 95% confidence interval = 0.831 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: 0.663 AC: 100734 AN: 151908 Hom.: 34779 Cov.: 31

Gnomad AFR AF: 0.838

Gnomad AMI AF: 0.678

Gnomad AMR AF: 0.495

Gnomad ASJ AF: 0.560

Gnomad EAS AF: 0.400

Gnomad SAS AF: 0.551

Gnomad FIN AF: 0.729

Gnomad MID AF: 0.589

Gnomad NFE AF: 0.618

Gnomad OTH AF: 0.640

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

GnomAD4 genome AF: 0.663 AC: 100818 AN: 152026 Hom.: 34812 Cov.: 31 AF XY: 0.661 AC XY: 49146 AN XY: 74310

Gnomad4 AFR AF: 0.838

Gnomad4 AMR AF: 0.494

Gnomad4 ASJ AF: 0.560

Gnomad4 EAS AF: 0.400

Gnomad4 SAS AF: 0.549

Gnomad4 FIN AF: 0.729

Gnomad4 NFE AF: 0.618

Gnomad4 OTH AF: 0.640

Alfa AF: 0.569 Hom.: 4786

Bravo AF: 0.649

Asia WGS AF: 0.495 AC: 1720 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.070
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1399564; hg19: chr8-76483856;