chr6-32885265-C-A

Position:

• chr6-32885265-C-A

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 0.138 in 152,022 control chromosomes in the GnomAD database, including 1,765 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 0.14 (1765 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.55

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.214 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.138 AC: 20933 AN: 151904 Hom.: 1752 Cov.: 30

Gnomad AFR AF: 0.218

Gnomad AMI AF: 0.0230

Gnomad AMR AF: 0.153

Gnomad ASJ AF: 0.185

Gnomad EAS AF: 0.173

Gnomad SAS AF: 0.177

Gnomad FIN AF: 0.0815

Gnomad MID AF: 0.130

Gnomad NFE AF: 0.0885

Gnomad OTH AF: 0.132

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

GnomAD4 genome AF: 0.138 AC: 20996 AN: 152022 Hom.: 1765 Cov.: 30 AF XY: 0.140 AC XY: 10412 AN XY: 74314

Gnomad4 AFR AF: 0.218

Gnomad4 AMR AF: 0.154

Gnomad4 ASJ AF: 0.185

Gnomad4 EAS AF: 0.173

Gnomad4 SAS AF: 0.177

Gnomad4 FIN AF: 0.0815

Gnomad4 NFE AF: 0.0885

Gnomad4 OTH AF: 0.135

Alfa AF: 0.0915 Hom.: 434

Bravo AF: 0.144

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.13
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7767277; hg19: chr6-32853042;