6-32603062-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.744 in 151,436 control chromosomes in the GnomAD database, including 42,111 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 0.74 (42111 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.236

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.783 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.744 AC: 112638 AN: 151320 Hom.: 42077 Cov.: 30

Gnomad AFR AF: 0.767

Gnomad AMI AF: 0.687

Gnomad AMR AF: 0.787

Gnomad ASJ AF: 0.786

Gnomad EAS AF: 0.803

Gnomad SAS AF: 0.729

Gnomad FIN AF: 0.655

Gnomad MID AF: 0.864

Gnomad NFE AF: 0.729

Gnomad OTH AF: 0.774

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

GnomAD4 genome AF: 0.744 AC: 112722 AN: 151436 Hom.: 42111 Cov.: 30 AF XY: 0.742 AC XY: 54862 AN XY: 73978

Gnomad4 AFR AF: 0.767

Gnomad4 AMR AF: 0.787

Gnomad4 ASJ AF: 0.786

Gnomad4 EAS AF: 0.804

Gnomad4 SAS AF: 0.728

Gnomad4 FIN AF: 0.655

Gnomad4 NFE AF: 0.729

Gnomad4 OTH AF: 0.770

Alfa AF: 0.737 Hom.: 36841

Bravo AF: 0.759

Asia WGS AF: 0.710 AC: 2472 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
Cadd	Benign	4.7
Dann	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9270856; hg19: chr6-32570839;