rs2857211

Variant names:

• chr6-32772665-A-G
• rs2857211

Your query was ambiguous. Multiple possible variants found:

• chr6-32772665-A-G
• chr6-32772665-A-T

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 0.692 in 152,008 control chromosomes in the GnomAD database, including 36,609 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 0.69 (36609 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00800
• Publications: 21 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.868 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: 0.692 AC: 105090 AN: 151890 Hom.: 36587 Cov.: 32

Gnomad AFR AF: 0.682

Gnomad AMI AF: 0.768

Gnomad AMR AF: 0.686

Gnomad ASJ AF: 0.672

Gnomad EAS AF: 0.774

Gnomad SAS AF: 0.890

Gnomad FIN AF: 0.749

Gnomad MID AF: 0.801

Gnomad NFE AF: 0.670

Gnomad OTH AF: 0.691

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

GnomAD4 genome AF: 0.692 AC: 105158 AN: 152008 Hom.: 36609 Cov.: 32 AF XY: 0.700 AC XY: 52018 AN XY: 74298

African (AFR) AF: 0.682 AC: 28264 AN: 41458

American (AMR) AF: 0.686 AC: 10469 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.672 AC: 2333 AN: 3472

East Asian (EAS) AF: 0.774 AC: 4012 AN: 5182

South Asian (SAS) AF: 0.890 AC: 4285 AN: 4814

European-Finnish (FIN) AF: 0.749 AC: 7902 AN: 10548

Middle Eastern (MID) AF: 0.796 AC: 234 AN: 294

European-Non Finnish (NFE) AF: 0.670 AC: 45496 AN: 67950

Other (OTH) AF: 0.694 AC: 1464 AN: 2110

Alfa AF: 0.671 Hom.: 85039

Bravo AF: 0.680

Asia WGS AF: 0.830 AC: 2885 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	5.7
DANN	Benign	0.80
PhyloP100		-0.0080

Splicing

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

Other links and lift over

dbSNP: rs2857211; hg19: chr6-32740442; COSMIC: COSV54964679;