6-32695614-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 0.536 in 151,810 control chromosomes in the GnomAD database, including 22,259 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 0.54 (22259 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.883

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.634 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: 0.536 AC: 81302 AN: 151692 Hom.: 22238 Cov.: 30

Gnomad AFR AF: 0.523

Gnomad AMI AF: 0.714

Gnomad AMR AF: 0.634

Gnomad ASJ AF: 0.614

Gnomad EAS AF: 0.653

Gnomad SAS AF: 0.417

Gnomad FIN AF: 0.615

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.502

Gnomad OTH AF: 0.552

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

GnomAD4 genome AF: 0.536 AC: 81379 AN: 151810 Hom.: 22259 Cov.: 30 AF XY: 0.541 AC XY: 40114 AN XY: 74204

Gnomad4 AFR AF: 0.523

Gnomad4 AMR AF: 0.634

Gnomad4 ASJ AF: 0.614

Gnomad4 EAS AF: 0.653

Gnomad4 SAS AF: 0.417

Gnomad4 FIN AF: 0.615

Gnomad4 NFE AF: 0.502

Gnomad4 OTH AF: 0.555

Alfa AF: 0.401 Hom.: 1114

Bravo AF: 0.543

Asia WGS AF: 0.595 AC: 2075 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
Cadd	Benign	5.4
Dann	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9275295; hg19: chr6-32663391;