rs9275418

Variant names:

• chr6-32702467-A-G
• rs9275418

Your query was ambiguous. Multiple possible variants found:

• chr6-32702467-A-G
• chr6-32702467-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 0.295 in 151,752 control chromosomes in the GnomAD database, including 7,064 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 0.30 (7064 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.353
• Publications: 37 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.389 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: 0.295 AC: 44721 AN: 151634 Hom.: 7048 Cov.: 31

Gnomad AFR AF: 0.294

Gnomad AMI AF: 0.399

Gnomad AMR AF: 0.397

Gnomad ASJ AF: 0.324

Gnomad EAS AF: 0.296

Gnomad SAS AF: 0.209

Gnomad FIN AF: 0.467

Gnomad MID AF: 0.203

Gnomad NFE AF: 0.249

Gnomad OTH AF: 0.291

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

GnomAD4 genome AF: 0.295 AC: 44782 AN: 151752 Hom.: 7064 Cov.: 31 AF XY: 0.305 AC XY: 22609 AN XY: 74146

African (AFR) AF: 0.294 AC: 12178 AN: 41354

American (AMR) AF: 0.398 AC: 6064 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.324 AC: 1126 AN: 3470

East Asian (EAS) AF: 0.297 AC: 1531 AN: 5160

South Asian (SAS) AF: 0.211 AC: 1017 AN: 4814

European-Finnish (FIN) AF: 0.467 AC: 4903 AN: 10494

Middle Eastern (MID) AF: 0.207 AC: 61 AN: 294

European-Non Finnish (NFE) AF: 0.249 AC: 16931 AN: 67896

Other (OTH) AF: 0.288 AC: 608 AN: 2108

Alfa AF: 0.273 Hom.: 6810

Bravo AF: 0.295

Asia WGS AF: 0.273 AC: 951 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	7.0
DANN	Benign	0.80
PhyloP100		-0.35

Splicing

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

Other links and lift over

dbSNP: rs9275418; hg19: chr6-32670244;