chr6-81821197-A-G

Variant names:

• chr6-81821197-A-G
• rs733413

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.268 in 152,036 control chromosomes in the GnomAD database, including 5,624 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 0.27 (5624 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.792
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.37).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.345 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: 0.268 AC: 40671 AN: 151918 Hom.: 5616 Cov.: 33

Gnomad AFR AF: 0.213

Gnomad AMI AF: 0.310

Gnomad AMR AF: 0.352

Gnomad ASJ AF: 0.319

Gnomad EAS AF: 0.351

Gnomad SAS AF: 0.273

Gnomad FIN AF: 0.285

Gnomad MID AF: 0.334

Gnomad NFE AF: 0.268

Gnomad OTH AF: 0.294

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

GnomAD4 genome AF: 0.268 AC: 40681 AN: 152036 Hom.: 5624 Cov.: 33 AF XY: 0.272 AC XY: 20178 AN XY: 74296

African (AFR) AF: 0.213 AC: 8841 AN: 41484

American (AMR) AF: 0.352 AC: 5377 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.319 AC: 1105 AN: 3468

East Asian (EAS) AF: 0.351 AC: 1806 AN: 5150

South Asian (SAS) AF: 0.273 AC: 1316 AN: 4826

European-Finnish (FIN) AF: 0.285 AC: 3020 AN: 10582

Middle Eastern (MID) AF: 0.332 AC: 97 AN: 292

European-Non Finnish (NFE) AF: 0.268 AC: 18210 AN: 67962

Other (OTH) AF: 0.297 AC: 628 AN: 2112

Alfa AF: 0.260 Hom.: 654

Bravo AF: 0.274

Asia WGS AF: 0.293 AC: 1020 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.37
CADD	Benign	15
DANN	Benign	0.93
PhyloP100		-0.79

Splicing

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

Other links and lift over

dbSNP: rs733413; hg19: chr6-82530914;