8-85321245-T-C

Variant names:

• chr8-85321245-T-C
• rs1496533

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 0.529 in 151,942 control chromosomes in the GnomAD database, including 21,484 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 0.53 (21484 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.377
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.526 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.529 AC: 80310 AN: 151824 Hom.: 21466 Cov.: 32

Gnomad AFR AF: 0.530

Gnomad AMI AF: 0.507

Gnomad AMR AF: 0.497

Gnomad ASJ AF: 0.539

Gnomad EAS AF: 0.397

Gnomad SAS AF: 0.444

Gnomad FIN AF: 0.657

Gnomad MID AF: 0.532

Gnomad NFE AF: 0.531

Gnomad OTH AF: 0.546

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

GnomAD4 genome AF: 0.529 AC: 80361 AN: 151942 Hom.: 21484 Cov.: 32 AF XY: 0.532 AC XY: 39533 AN XY: 74288

African (AFR) AF: 0.530 AC: 21966 AN: 41446

American (AMR) AF: 0.497 AC: 7590 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.539 AC: 1869 AN: 3470

East Asian (EAS) AF: 0.397 AC: 2049 AN: 5160

South Asian (SAS) AF: 0.442 AC: 2131 AN: 4820

European-Finnish (FIN) AF: 0.657 AC: 6920 AN: 10530

Middle Eastern (MID) AF: 0.537 AC: 158 AN: 294

European-Non Finnish (NFE) AF: 0.531 AC: 36067 AN: 67928

Other (OTH) AF: 0.545 AC: 1149 AN: 2108

Alfa AF: 0.528 Hom.: 8509

Bravo AF: 0.520

Asia WGS AF: 0.400 AC: 1388 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.67
DANN	Benign	0.44
PhyloP100		-0.38

Splicing

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

Other links and lift over

dbSNP: rs1496533; hg19: chr8-86233474;