6-32566734-C-G

Position:

• chr6-32566734-C-G

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

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 0.061 (129 hom., cov: 18)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.136

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).

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: 0.00 AC: 7578 AN: 124500 Hom.: 129 Cov.: 18 FAILED QC

Gnomad AFR AF: 0.0914

Gnomad AMI AF: 0.0496

Gnomad AMR AF: 0.0586

Gnomad ASJ AF: 0.0565

Gnomad EAS AF: 0.0382

Gnomad SAS AF: 0.0294

Gnomad FIN AF: 0.0414

Gnomad MID AF: 0.0240

Gnomad NFE AF: 0.0498

Gnomad OTH AF: 0.0647

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0609 AC: 7590 AN: 124600 Hom.: 129 Cov.: 18 AF XY: 0.0598 AC XY: 3627 AN XY: 60638

Gnomad4 AFR AF: 0.0915

Gnomad4 AMR AF: 0.0585

Gnomad4 ASJ AF: 0.0565

Gnomad4 EAS AF: 0.0383

Gnomad4 SAS AF: 0.0296

Gnomad4 FIN AF: 0.0414

Gnomad4 NFE AF: 0.0498

Gnomad4 OTH AF: 0.0632

Alfa AF: 0.00571 Hom.: 1

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	6.8
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11758998; hg19: chr6-32534511;