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
• Publications: 4 publications found

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

African (AFR) AF: 0.661 AC: 27395 AN: 41468

American (AMR) AF: 0.645 AC: 9862 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.708 AC: 2459 AN: 3472

East Asian (EAS) AF: 0.449 AC: 2319 AN: 5168

South Asian (SAS) AF: 0.634 AC: 3042 AN: 4800

European-Finnish (FIN) AF: 0.866 AC: 9166 AN: 10584

Middle Eastern (MID) AF: 0.690 AC: 203 AN: 294

European-Non Finnish (NFE) AF: 0.833 AC: 56681 AN: 68004

Other (OTH) AF: 0.725 AC: 1532 AN: 2112

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
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs434496; hg19: chr8-86497953;