8-82016363-T-C

Variant names:

• chr8-82016363-T-C
• rs7820074

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 0.373 in 152,004 control chromosomes in the GnomAD database, including 10,716 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 0.37 (10716 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0180
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.404 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: 0.373 AC: 56597 AN: 151886 Hom.: 10705 Cov.: 32

Gnomad AFR AF: 0.338

Gnomad AMI AF: 0.419

Gnomad AMR AF: 0.382

Gnomad ASJ AF: 0.348

Gnomad EAS AF: 0.398

Gnomad SAS AF: 0.263

Gnomad FIN AF: 0.309

Gnomad MID AF: 0.291

Gnomad NFE AF: 0.408

Gnomad OTH AF: 0.387

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

GnomAD4 genome AF: 0.373 AC: 56643 AN: 152004 Hom.: 10716 Cov.: 32 AF XY: 0.367 AC XY: 27294 AN XY: 74296

African (AFR) AF: 0.338 AC: 14002 AN: 41476

American (AMR) AF: 0.382 AC: 5835 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.348 AC: 1208 AN: 3468

East Asian (EAS) AF: 0.399 AC: 2058 AN: 5158

South Asian (SAS) AF: 0.263 AC: 1269 AN: 4820

European-Finnish (FIN) AF: 0.309 AC: 3264 AN: 10576

Middle Eastern (MID) AF: 0.310 AC: 91 AN: 294

European-Non Finnish (NFE) AF: 0.408 AC: 27714 AN: 67922

Other (OTH) AF: 0.389 AC: 821 AN: 2112

Alfa AF: 0.365 Hom.: 5222

Bravo AF: 0.383

Asia WGS AF: 0.338 AC: 1174 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	6.0
DANN	Benign	0.85
PhyloP100		0.018

Splicing

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

Other links and lift over

dbSNP: rs7820074; hg19: chr8-82928598; COSMIC: COSV54983742;