6-32772894-G-C

Position:

• chr6-32772894-G-C

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 0.683 in 148,306 control chromosomes in the GnomAD database, including 34,543 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 0.68 (34543 hom., cov: 24)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.884

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.787 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: 0.683 AC: 101203 AN: 148206 Hom.: 34536 Cov.: 24

Gnomad AFR AF: 0.674

Gnomad AMI AF: 0.773

Gnomad AMR AF: 0.673

Gnomad ASJ AF: 0.685

Gnomad EAS AF: 0.730

Gnomad SAS AF: 0.810

Gnomad FIN AF: 0.785

Gnomad MID AF: 0.804

Gnomad NFE AF: 0.660

Gnomad OTH AF: 0.700

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

GnomAD4 genome AF: 0.683 AC: 101248 AN: 148306 Hom.: 34543 Cov.: 24 AF XY: 0.690 AC XY: 49876 AN XY: 72246

Gnomad4 AFR AF: 0.674

Gnomad4 AMR AF: 0.673

Gnomad4 ASJ AF: 0.685

Gnomad4 EAS AF: 0.731

Gnomad4 SAS AF: 0.808

Gnomad4 FIN AF: 0.785

Gnomad4 NFE AF: 0.660

Gnomad4 OTH AF: 0.703

Alfa AF: 0.654 Hom.: 16154

Bravo AF: 0.665

Asia WGS AF: 0.778 AC: 2703 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.61
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2621421; hg19: chr6-32740671;