rs9275572

Variant names:

• chr6-32711222-A-G
• rs9275572

Your query was ambiguous. Multiple possible variants found:

• chr6-32711222-A-G
• chr6-32711222-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 0.59 in 151,908 control chromosomes in the GnomAD database, including 26,819 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 0.59 (26819 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.10
• Publications: 121 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 (EAS) allele frequency at 95% confidence interval = 0.711 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: 0.590 AC: 89567 AN: 151788 Hom.: 26811 Cov.: 31

Gnomad AFR AF: 0.562

Gnomad AMI AF: 0.730

Gnomad AMR AF: 0.643

Gnomad ASJ AF: 0.754

Gnomad EAS AF: 0.731

Gnomad SAS AF: 0.668

Gnomad FIN AF: 0.543

Gnomad MID AF: 0.694

Gnomad NFE AF: 0.574

Gnomad OTH AF: 0.639

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

GnomAD4 genome AF: 0.590 AC: 89624 AN: 151908 Hom.: 26819 Cov.: 31 AF XY: 0.590 AC XY: 43819 AN XY: 74236

African (AFR) AF: 0.562 AC: 23257 AN: 41390

American (AMR) AF: 0.643 AC: 9826 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.754 AC: 2616 AN: 3470

East Asian (EAS) AF: 0.730 AC: 3781 AN: 5176

South Asian (SAS) AF: 0.667 AC: 3214 AN: 4816

European-Finnish (FIN) AF: 0.543 AC: 5730 AN: 10554

Middle Eastern (MID) AF: 0.682 AC: 199 AN: 292

European-Non Finnish (NFE) AF: 0.574 AC: 38981 AN: 67912

Other (OTH) AF: 0.641 AC: 1354 AN: 2112

Alfa AF: 0.583 Hom.: 86771

Asia WGS AF: 0.718 AC: 2496 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.4
DANN	Benign	0.57
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs9275572; hg19: chr6-32678999; COSMIC: COSV70582366;