chr6-32721547-A-T

Variant names:

• chr6-32721547-A-T
• rs9275765

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 0.742 in 151,866 control chromosomes in the GnomAD database, including 42,217 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 0.74 (42217 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.164
• Publications: 17 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.869 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: 0.742 AC: 112523 AN: 151748 Hom.: 42183 Cov.: 30

Gnomad AFR AF: 0.639

Gnomad AMI AF: 0.815

Gnomad AMR AF: 0.784

Gnomad ASJ AF: 0.814

Gnomad EAS AF: 0.885

Gnomad SAS AF: 0.891

Gnomad FIN AF: 0.770

Gnomad MID AF: 0.835

Gnomad NFE AF: 0.762

Gnomad OTH AF: 0.786

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

GnomAD4 genome AF: 0.742 AC: 112612 AN: 151866 Hom.: 42217 Cov.: 30 AF XY: 0.745 AC XY: 55266 AN XY: 74226

African (AFR) AF: 0.639 AC: 26408 AN: 41336

American (AMR) AF: 0.784 AC: 11972 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.814 AC: 2823 AN: 3468

East Asian (EAS) AF: 0.885 AC: 4570 AN: 5166

South Asian (SAS) AF: 0.891 AC: 4291 AN: 4814

European-Finnish (FIN) AF: 0.770 AC: 8125 AN: 10554

Middle Eastern (MID) AF: 0.840 AC: 247 AN: 294

European-Non Finnish (NFE) AF: 0.762 AC: 51774 AN: 67950

Other (OTH) AF: 0.789 AC: 1659 AN: 2102

Alfa AF: 0.747 Hom.: 5297

Bravo AF: 0.734

Asia WGS AF: 0.870 AC: 3023 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	4.2
DANN	Benign	0.35
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs9275765; hg19: chr6-32689324;