rs9275772

Variant names:

• chr6-32721726-T-C
• rs9275772

Your query was ambiguous. Multiple possible variants found:

• chr6-32721726-T-C
• chr6-32721726-T-G

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 0.741 in 152,016 control chromosomes in the GnomAD database, including 42,256 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 (42256 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.30
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.869 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.741 AC: 112629 AN: 151898 Hom.: 42222 Cov.: 31

Gnomad AFR AF: 0.639

Gnomad AMI AF: 0.816

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: 0.785

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

GnomAD4 genome AF: 0.741 AC: 112718 AN: 152016 Hom.: 42256 Cov.: 31 AF XY: 0.744 AC XY: 55334 AN XY: 74324

African (AFR) AF: 0.639 AC: 26453 AN: 41410

American (AMR) AF: 0.784 AC: 11989 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.814 AC: 2825 AN: 3472

East Asian (EAS) AF: 0.885 AC: 4574 AN: 5166

South Asian (SAS) AF: 0.891 AC: 4295 AN: 4820

European-Finnish (FIN) AF: 0.770 AC: 8145 AN: 10578

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

European-Non Finnish (NFE) AF: 0.762 AC: 51783 AN: 67960

Other (OTH) AF: 0.788 AC: 1664 AN: 2112

Alfa AF: 0.741 Hom.: 27995

Bravo AF: 0.734

Asia WGS AF: 0.870 AC: 3023 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	1.5
DANN	Benign	0.30
PhyloP100		-2.3

Splicing

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

Other links and lift over

dbSNP: rs9275772; hg19: chr6-32689503;