rs6980733

Variant names:

• chr8-83826372-T-G
• rs6980733

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 0.37 in 152,072 control chromosomes in the GnomAD database, including 12,308 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 (12308 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.198
• Publications: 1 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 = 0.481 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: 0.370 AC: 56202 AN: 151954 Hom.: 12299 Cov.: 32

Gnomad AFR AF: 0.136

Gnomad AMI AF: 0.657

Gnomad AMR AF: 0.404

Gnomad ASJ AF: 0.533

Gnomad EAS AF: 0.156

Gnomad SAS AF: 0.469

Gnomad FIN AF: 0.469

Gnomad MID AF: 0.535

Gnomad NFE AF: 0.485

Gnomad OTH AF: 0.385

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

GnomAD4 genome AF: 0.370 AC: 56215 AN: 152072 Hom.: 12308 Cov.: 32 AF XY: 0.368 AC XY: 27386 AN XY: 74358

African (AFR) AF: 0.136 AC: 5645 AN: 41510

American (AMR) AF: 0.404 AC: 6160 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.533 AC: 1849 AN: 3470

East Asian (EAS) AF: 0.157 AC: 812 AN: 5178

South Asian (SAS) AF: 0.470 AC: 2265 AN: 4818

European-Finnish (FIN) AF: 0.469 AC: 4957 AN: 10560

Middle Eastern (MID) AF: 0.544 AC: 160 AN: 294

European-Non Finnish (NFE) AF: 0.485 AC: 32957 AN: 67960

Other (OTH) AF: 0.384 AC: 811 AN: 2112

Alfa AF: 0.417 Hom.: 5947

Bravo AF: 0.353

Asia WGS AF: 0.278 AC: 973 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.3
DANN	Benign	0.78
PhyloP100		-0.20

Splicing

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

Other links and lift over

dbSNP: rs6980733; hg19: chr8-84738607;