8-85585724-C-T

Variant names:

• chr8-85585724-C-T
• rs434496

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.745 in 152,096 control chromosomes in the GnomAD database, including 43,134 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 0.75 (43134 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.05

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.828 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.745 AC: 113267 AN: 151978 Hom.: 43115 Cov.: 32

Gnomad AFR AF: 0.661

Gnomad AMI AF: 0.728

Gnomad AMR AF: 0.646

Gnomad ASJ AF: 0.708

Gnomad EAS AF: 0.449

Gnomad SAS AF: 0.636

Gnomad FIN AF: 0.866

Gnomad MID AF: 0.684

Gnomad NFE AF: 0.834

Gnomad OTH AF: 0.724

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

GnomAD4 genome AF: 0.745 AC: 113323 AN: 152096 Hom.: 43134 Cov.: 32 AF XY: 0.740 AC XY: 55058 AN XY: 74366

Gnomad4 AFR AF: 0.661 AC: 0.66063 AN: 0.66063

Gnomad4 AMR AF: 0.645 AC: 0.645334 AN: 0.645334

Gnomad4 ASJ AF: 0.708 AC: 0.708237 AN: 0.708237

Gnomad4 EAS AF: 0.449 AC: 0.448723 AN: 0.448723

Gnomad4 SAS AF: 0.634 AC: 0.63375 AN: 0.63375

Gnomad4 FIN AF: 0.866 AC: 0.866024 AN: 0.866024

Gnomad4 NFE AF: 0.833 AC: 0.833495 AN: 0.833495

Gnomad4 OTH AF: 0.725 AC: 0.725379 AN: 0.725379

Alfa AF: 0.797 Hom.: 135897

Bravo AF: 0.724

Asia WGS AF: 0.543 AC: 1889 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	0.70
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs434496; hg19: chr8-86497953;