rs9271850

Variant names:

• chr6-32627283-A-G
• rs9271850

Your query was ambiguous. Multiple possible variants found:

• chr6-32627283-A-G
• chr6-32627283-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 0.323 in 150,130 control chromosomes in the GnomAD database, including 8,307 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 0.32 (8307 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.306
• Publications: 19 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.339 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: 0.323 AC: 48457 AN: 150004 Hom.: 8301 Cov.: 28

Gnomad AFR AF: 0.303

Gnomad AMI AF: 0.226

Gnomad AMR AF: 0.333

Gnomad ASJ AF: 0.404

Gnomad EAS AF: 0.259

Gnomad SAS AF: 0.290

Gnomad FIN AF: 0.276

Gnomad MID AF: 0.457

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.351

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

GnomAD4 genome AF: 0.323 AC: 48490 AN: 150130 Hom.: 8307 Cov.: 28 AF XY: 0.320 AC XY: 23434 AN XY: 73340

African (AFR) AF: 0.303 AC: 12376 AN: 40850

American (AMR) AF: 0.332 AC: 4999 AN: 15040

Ashkenazi Jewish (ASJ) AF: 0.404 AC: 1395 AN: 3456

East Asian (EAS) AF: 0.259 AC: 1320 AN: 5096

South Asian (SAS) AF: 0.290 AC: 1377 AN: 4748

European-Finnish (FIN) AF: 0.276 AC: 2872 AN: 10392

Middle Eastern (MID) AF: 0.465 AC: 132 AN: 284

European-Non Finnish (NFE) AF: 0.343 AC: 23086 AN: 67272

Other (OTH) AF: 0.349 AC: 727 AN: 2082

Alfa AF: 0.350 Hom.: 12265

Bravo AF: 0.326

Asia WGS AF: 0.253 AC: 876 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	9.8
DANN	Benign	0.62
PhyloP100		0.31

Splicing

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

Other links and lift over

dbSNP: rs9271850; hg19: chr6-32595060;