chr8-96171214-T-A

Position:

• chr8-96171214-T-A

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 0.645 in 152,134 control chromosomes in the GnomAD database, including 33,063 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 0.65 (33063 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00900

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.802 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: 0.645 AC: 98037 AN: 152014 Hom.: 33012 Cov.: 33

Gnomad AFR AF: 0.808

Gnomad AMI AF: 0.664

Gnomad AMR AF: 0.474

Gnomad ASJ AF: 0.692

Gnomad EAS AF: 0.279

Gnomad SAS AF: 0.613

Gnomad FIN AF: 0.569

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.623

Gnomad OTH AF: 0.635

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

GnomAD4 genome AF: 0.645 AC: 98142 AN: 152134 Hom.: 33063 Cov.: 33 AF XY: 0.638 AC XY: 47461 AN XY: 74376

Gnomad4 AFR AF: 0.809

Gnomad4 AMR AF: 0.473

Gnomad4 ASJ AF: 0.692

Gnomad4 EAS AF: 0.279

Gnomad4 SAS AF: 0.613

Gnomad4 FIN AF: 0.569

Gnomad4 NFE AF: 0.623

Gnomad4 OTH AF: 0.635

Alfa AF: 0.640 Hom.: 3931

Bravo AF: 0.639

Asia WGS AF: 0.454 AC: 1582 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.2
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs714552; hg19: chr8-97183442;