6-32795737-A-G

Variant names:

• chr6-32795737-A-G
• rs2857151

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 0.672 in 151,424 control chromosomes in the GnomAD database, including 34,339 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 0.67 (34339 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.693
• Publications: 62 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.786 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: 0.672 AC: 101647 AN: 151306 Hom.: 34330 Cov.: 30

Gnomad AFR AF: 0.650

Gnomad AMI AF: 0.820

Gnomad AMR AF: 0.655

Gnomad ASJ AF: 0.709

Gnomad EAS AF: 0.718

Gnomad SAS AF: 0.808

Gnomad FIN AF: 0.767

Gnomad MID AF: 0.787

Gnomad NFE AF: 0.656

Gnomad OTH AF: 0.679

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

GnomAD4 genome AF: 0.672 AC: 101693 AN: 151424 Hom.: 34339 Cov.: 30 AF XY: 0.678 AC XY: 50203 AN XY: 74000

African (AFR) AF: 0.649 AC: 26756 AN: 41202

American (AMR) AF: 0.655 AC: 9970 AN: 15218

Ashkenazi Jewish (ASJ) AF: 0.709 AC: 2455 AN: 3462

East Asian (EAS) AF: 0.717 AC: 3679 AN: 5130

South Asian (SAS) AF: 0.808 AC: 3881 AN: 4806

European-Finnish (FIN) AF: 0.767 AC: 8056 AN: 10502

Middle Eastern (MID) AF: 0.784 AC: 229 AN: 292

European-Non Finnish (NFE) AF: 0.656 AC: 44488 AN: 67798

Other (OTH) AF: 0.681 AC: 1433 AN: 2104

Alfa AF: 0.664 Hom.: 126938

Bravo AF: 0.659

Asia WGS AF: 0.748 AC: 2604 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.88
DANN	Benign	0.52
PhyloP100		-0.69

Splicing

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

Other links and lift over

dbSNP: rs2857151; hg19: chr6-32763514;