rs6933763

Variant names:

• chr6-32755075-A-G
• rs6933763

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 0.117 in 152,028 control chromosomes in the GnomAD database, including 1,272 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 0.12 (1272 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.151

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.175 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: 0.117 AC: 17740 AN: 151910 Hom.: 1262 Cov.: 31

Gnomad AFR AF: 0.178

Gnomad AMI AF: 0.0154

Gnomad AMR AF: 0.117

Gnomad ASJ AF: 0.173

Gnomad EAS AF: 0.0910

Gnomad SAS AF: 0.178

Gnomad FIN AF: 0.0387

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.0869

Gnomad OTH AF: 0.147

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

GnomAD4 genome AF: 0.117 AC: 17788 AN: 152028 Hom.: 1272 Cov.: 31 AF XY: 0.117 AC XY: 8727 AN XY: 74336

Gnomad4 AFR AF: 0.178

Gnomad4 AMR AF: 0.117

Gnomad4 ASJ AF: 0.173

Gnomad4 EAS AF: 0.0916

Gnomad4 SAS AF: 0.179

Gnomad4 FIN AF: 0.0387

Gnomad4 NFE AF: 0.0869

Gnomad4 OTH AF: 0.146

Alfa AF: 0.0978 Hom.: 153

Bravo AF: 0.123

Asia WGS AF: 0.122 AC: 424 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	8.1
DANN	Benign	0.90

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6933763; hg19: chr6-32722852;