chr8-93132977-G-C

Variant names:

• chr8-93132977-G-C
• rs1483457

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 0.281 in 151,932 control chromosomes in the GnomAD database, including 6,565 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 0.28 (6565 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0370
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.56).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.33 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.282 AC: 42759 AN: 151814 Hom.: 6569 Cov.: 32

Gnomad AFR AF: 0.160

Gnomad AMI AF: 0.458

Gnomad AMR AF: 0.338

Gnomad ASJ AF: 0.437

Gnomad EAS AF: 0.244

Gnomad SAS AF: 0.212

Gnomad FIN AF: 0.344

Gnomad MID AF: 0.365

Gnomad NFE AF: 0.329

Gnomad OTH AF: 0.312

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

GnomAD4 genome AF: 0.281 AC: 42749 AN: 151932 Hom.: 6565 Cov.: 32 AF XY: 0.283 AC XY: 21011 AN XY: 74240

African (AFR) AF: 0.160 AC: 6645 AN: 41482

American (AMR) AF: 0.338 AC: 5139 AN: 15226

Ashkenazi Jewish (ASJ) AF: 0.437 AC: 1516 AN: 3466

East Asian (EAS) AF: 0.244 AC: 1256 AN: 5138

South Asian (SAS) AF: 0.210 AC: 1012 AN: 4812

European-Finnish (FIN) AF: 0.344 AC: 3632 AN: 10554

Middle Eastern (MID) AF: 0.359 AC: 104 AN: 290

European-Non Finnish (NFE) AF: 0.329 AC: 22375 AN: 67946

Other (OTH) AF: 0.310 AC: 655 AN: 2112

Alfa AF: 0.197 Hom.: 439

Bravo AF: 0.278

Asia WGS AF: 0.211 AC: 737 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.56
CADD	Benign	9.7
DANN	Benign	0.65
PhyloP100		0.037

Splicing

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

Other links and lift over

dbSNP: rs1483457; hg19: chr8-94145206; COSMIC: COSV107543640;