rs9275371

Variant names:

• chr6-32700519-T-C
• rs9275371

Your query was ambiguous. Multiple possible variants found:

• chr6-32700519-T-C
• chr6-32700519-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 0.292 in 151,218 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 0.29 (7064 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.757
• Publications: 34 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.387 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: 0.292 AC: 44095 AN: 151100 Hom.: 7048 Cov.: 32

Gnomad AFR AF: 0.291

Gnomad AMI AF: 0.399

Gnomad AMR AF: 0.395

Gnomad ASJ AF: 0.323

Gnomad EAS AF: 0.296

Gnomad SAS AF: 0.208

Gnomad FIN AF: 0.462

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.246

Gnomad OTH AF: 0.289

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

GnomAD4 genome AF: 0.292 AC: 44156 AN: 151218 Hom.: 7064 Cov.: 32 AF XY: 0.302 AC XY: 22308 AN XY: 73908

African (AFR) AF: 0.291 AC: 11976 AN: 41216

American (AMR) AF: 0.396 AC: 6011 AN: 15196

Ashkenazi Jewish (ASJ) AF: 0.323 AC: 1116 AN: 3460

East Asian (EAS) AF: 0.296 AC: 1531 AN: 5170

South Asian (SAS) AF: 0.210 AC: 1010 AN: 4810

European-Finnish (FIN) AF: 0.462 AC: 4830 AN: 10448

Middle Eastern (MID) AF: 0.204 AC: 60 AN: 294

European-Non Finnish (NFE) AF: 0.246 AC: 16659 AN: 67620

Other (OTH) AF: 0.287 AC: 601 AN: 2096

Alfa AF: 0.282 Hom.: 15222

Bravo AF: 0.295

Asia WGS AF: 0.276 AC: 966 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	7.4
DANN	Benign	0.54
PhyloP100		-0.76

Splicing

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

Other links and lift over

dbSNP: rs9275371; hg19: chr6-32668296;