chr6-32476184-A-G

Position:

• chr6-32476184-A-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 0.68 (28162 hom., cov: 39)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.99

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).

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: 100097 AN: 148098 Hom.: 28143 Cov.: 39 FAILED QC

Gnomad AFR AF: 0.615

Gnomad AMI AF: 0.753

Gnomad AMR AF: 0.713

Gnomad ASJ AF: 0.720

Gnomad EAS AF: 0.610

Gnomad SAS AF: 0.634

Gnomad FIN AF: 0.784

Gnomad MID AF: 0.643

Gnomad NFE AF: 0.691

Gnomad OTH AF: 0.684

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: InbreedingCoeff AF: 0.676 AC: 100165 AN: 148212 Hom.: 28162 Cov.: 39 AF XY: 0.677 AC XY: 49095 AN XY: 72470

Gnomad4 AFR AF: 0.615

Gnomad4 AMR AF: 0.714

Gnomad4 ASJ AF: 0.720

Gnomad4 EAS AF: 0.611

Gnomad4 SAS AF: 0.635

Gnomad4 FIN AF: 0.784

Gnomad4 NFE AF: 0.691

Gnomad4 OTH AF: 0.678

Alfa AF: 0.671 Hom.: 3090

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.3
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6457594; hg19: chr6-32443961;