chr6-32237333-T-C

Variant names:

• chr6-32237333-T-C
• rs9267911

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 0.449 in 151,958 control chromosomes in the GnomAD database, including 15,822 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 0.45 (15822 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.05
• Publications: 35 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.508 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: 0.449 AC: 68237 AN: 151842 Hom.: 15816 Cov.: 31

Gnomad AFR AF: 0.404

Gnomad AMI AF: 0.381

Gnomad AMR AF: 0.502

Gnomad ASJ AF: 0.778

Gnomad EAS AF: 0.437

Gnomad SAS AF: 0.525

Gnomad FIN AF: 0.332

Gnomad MID AF: 0.554

Gnomad NFE AF: 0.461

Gnomad OTH AF: 0.510

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

GnomAD4 genome AF: 0.449 AC: 68267 AN: 151958 Hom.: 15822 Cov.: 31 AF XY: 0.445 AC XY: 33075 AN XY: 74260

African (AFR) AF: 0.404 AC: 16716 AN: 41416

American (AMR) AF: 0.502 AC: 7654 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.778 AC: 2698 AN: 3470

East Asian (EAS) AF: 0.437 AC: 2257 AN: 5170

South Asian (SAS) AF: 0.525 AC: 2529 AN: 4816

European-Finnish (FIN) AF: 0.332 AC: 3498 AN: 10552

Middle Eastern (MID) AF: 0.568 AC: 166 AN: 292

European-Non Finnish (NFE) AF: 0.461 AC: 31321 AN: 67962

Other (OTH) AF: 0.512 AC: 1082 AN: 2114

Alfa AF: 0.465 Hom.: 63408

Bravo AF: 0.459

Asia WGS AF: 0.523 AC: 1819 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.5
DANN	Benign	0.33
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs9267911; hg19: chr6-32205110;