8-80546152-G-T

Variant names:

• chr8-80546152-G-T
• rs406629

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 0.477 in 151,994 control chromosomes in the GnomAD database, including 20,958 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 0.48 (20958 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.292
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.815 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: 0.477 AC: 72396 AN: 151876 Hom.: 20903 Cov.: 32

Gnomad AFR AF: 0.822

Gnomad AMI AF: 0.210

Gnomad AMR AF: 0.423

Gnomad ASJ AF: 0.327

Gnomad EAS AF: 0.393

Gnomad SAS AF: 0.376

Gnomad FIN AF: 0.332

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.326

Gnomad OTH AF: 0.466

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

GnomAD4 genome AF: 0.477 AC: 72497 AN: 151994 Hom.: 20958 Cov.: 32 AF XY: 0.474 AC XY: 35223 AN XY: 74282

African (AFR) AF: 0.823 AC: 34124 AN: 41484

American (AMR) AF: 0.422 AC: 6438 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.327 AC: 1135 AN: 3472

East Asian (EAS) AF: 0.393 AC: 2031 AN: 5162

South Asian (SAS) AF: 0.376 AC: 1812 AN: 4818

European-Finnish (FIN) AF: 0.332 AC: 3500 AN: 10530

Middle Eastern (MID) AF: 0.405 AC: 119 AN: 294

European-Non Finnish (NFE) AF: 0.326 AC: 22171 AN: 67958

Other (OTH) AF: 0.462 AC: 976 AN: 2112

Alfa AF: 0.281 Hom.: 858

Bravo AF: 0.500

Asia WGS AF: 0.367 AC: 1278 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.53
DANN	Benign	0.49
PhyloP100		-0.29

Splicing

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

Other links and lift over

dbSNP: rs406629; hg19: chr8-81458387;