6-32611193-T-C

Variant names:

• chr6-32611193-T-C
• rs502771

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 0.311 in 150,832 control chromosomes in the GnomAD database, including 7,685 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 0.31 (7685 hom., cov: 25)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.277

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.374 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: 0.311 AC: 46940 AN: 150716 Hom.: 7676 Cov.: 25

Gnomad AFR AF: 0.379

Gnomad AMI AF: 0.200

Gnomad AMR AF: 0.278

Gnomad ASJ AF: 0.318

Gnomad EAS AF: 0.378

Gnomad SAS AF: 0.335

Gnomad FIN AF: 0.222

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.286

Gnomad OTH AF: 0.329

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

GnomAD4 genome AF: 0.311 AC: 46982 AN: 150832 Hom.: 7685 Cov.: 25 AF XY: 0.309 AC XY: 22742 AN XY: 73670

Gnomad4 AFR AF: 0.379

Gnomad4 AMR AF: 0.277

Gnomad4 ASJ AF: 0.318

Gnomad4 EAS AF: 0.378

Gnomad4 SAS AF: 0.336

Gnomad4 FIN AF: 0.222

Gnomad4 NFE AF: 0.286

Gnomad4 OTH AF: 0.330

Alfa AF: 0.304 Hom.: 1761

Asia WGS AF: 0.319 AC: 1112 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	7.9
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs502771; hg19: chr6-32578970;