chr6-32606214-T-G

Variant names:

• chr6-32606214-T-G
• rs9270984

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 0.845 in 151,600 control chromosomes in the GnomAD database, including 54,133 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 0.84 (54133 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.296
• Publications: 40 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.869 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: 0.845 AC: 127950 AN: 151482 Hom.: 54089 Cov.: 29

Gnomad AFR AF: 0.837

Gnomad AMI AF: 0.909

Gnomad AMR AF: 0.881

Gnomad ASJ AF: 0.917

Gnomad EAS AF: 0.819

Gnomad SAS AF: 0.766

Gnomad FIN AF: 0.859

Gnomad MID AF: 0.901

Gnomad NFE AF: 0.841

Gnomad OTH AF: 0.877

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

GnomAD4 genome AF: 0.845 AC: 128046 AN: 151600 Hom.: 54133 Cov.: 29 AF XY: 0.843 AC XY: 62472 AN XY: 74068

African (AFR) AF: 0.837 AC: 34586 AN: 41318

American (AMR) AF: 0.881 AC: 13426 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.917 AC: 3175 AN: 3464

East Asian (EAS) AF: 0.820 AC: 4228 AN: 5156

South Asian (SAS) AF: 0.767 AC: 3680 AN: 4798

European-Finnish (FIN) AF: 0.859 AC: 9014 AN: 10496

Middle Eastern (MID) AF: 0.897 AC: 262 AN: 292

European-Non Finnish (NFE) AF: 0.841 AC: 57014 AN: 67826

Other (OTH) AF: 0.872 AC: 1832 AN: 2102

Alfa AF: 0.838 Hom.: 78950

Bravo AF: 0.850

Asia WGS AF: 0.746 AC: 2597 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.65
DANN	Benign	0.52
PhyloP100		-0.30

Splicing

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

Other links and lift over

dbSNP: rs9270984; hg19: chr6-32573991;