6-32723968-C-T

Variant names:

• chr6-32723968-C-T
• rs763026

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.226 in 151,918 control chromosomes in the GnomAD database, including 4,071 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 0.23 (4071 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.124
• Publications: 24 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.301 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: 0.226 AC: 34259 AN: 151800 Hom.: 4061 Cov.: 30

Gnomad AFR AF: 0.305

Gnomad AMI AF: 0.0833

Gnomad AMR AF: 0.186

Gnomad ASJ AF: 0.246

Gnomad EAS AF: 0.140

Gnomad SAS AF: 0.120

Gnomad FIN AF: 0.187

Gnomad MID AF: 0.225

Gnomad NFE AF: 0.207

Gnomad OTH AF: 0.236

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

GnomAD4 genome AF: 0.226 AC: 34290 AN: 151918 Hom.: 4071 Cov.: 30 AF XY: 0.220 AC XY: 16358 AN XY: 74250

African (AFR) AF: 0.305 AC: 12639 AN: 41378

American (AMR) AF: 0.186 AC: 2835 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.246 AC: 852 AN: 3470

East Asian (EAS) AF: 0.140 AC: 724 AN: 5158

South Asian (SAS) AF: 0.120 AC: 578 AN: 4810

European-Finnish (FIN) AF: 0.187 AC: 1974 AN: 10554

Middle Eastern (MID) AF: 0.224 AC: 66 AN: 294

European-Non Finnish (NFE) AF: 0.207 AC: 14056 AN: 67966

Other (OTH) AF: 0.233 AC: 490 AN: 2106

Alfa AF: 0.213 Hom.: 11779

Bravo AF: 0.227

Asia WGS AF: 0.131 AC: 459 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	10
DANN	Benign	0.44
PhyloP100		0.12

Splicing

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

Other links and lift over

dbSNP: rs763026; hg19: chr6-32691745;