chr8-20535695-T-C

Variant names:

• chr8-20535695-T-C
• rs7000921

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 0.299 in 152,062 control chromosomes in the GnomAD database, including 8,246 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 0.30 (8246 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.210
• Publications: 15 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.517 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: 0.298 AC: 45344 AN: 151944 Hom.: 8202 Cov.: 32

Gnomad AFR AF: 0.522

Gnomad AMI AF: 0.127

Gnomad AMR AF: 0.271

Gnomad ASJ AF: 0.191

Gnomad EAS AF: 0.249

Gnomad SAS AF: 0.329

Gnomad FIN AF: 0.150

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.203

Gnomad OTH AF: 0.259

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

GnomAD4 genome AF: 0.299 AC: 45451 AN: 152062 Hom.: 8246 Cov.: 32 AF XY: 0.294 AC XY: 21865 AN XY: 74354

African (AFR) AF: 0.523 AC: 21661 AN: 41438

American (AMR) AF: 0.271 AC: 4144 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.191 AC: 664 AN: 3472

East Asian (EAS) AF: 0.249 AC: 1289 AN: 5172

South Asian (SAS) AF: 0.328 AC: 1581 AN: 4820

European-Finnish (FIN) AF: 0.150 AC: 1586 AN: 10594

Middle Eastern (MID) AF: 0.167 AC: 49 AN: 294

European-Non Finnish (NFE) AF: 0.203 AC: 13805 AN: 67978

Other (OTH) AF: 0.264 AC: 556 AN: 2110

Alfa AF: 0.240 Hom.: 14645

Bravo AF: 0.316

Asia WGS AF: 0.335 AC: 1162 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	4.2
DANN	Benign	0.79
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs7000921; hg19: chr8-20393206;