6-32982185-G-T

Variant names:

• chr6-32982185-G-T
• rs184054

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 0.318 in 151,972 control chromosomes in the GnomAD database, including 8,399 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 0.32 (8399 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.14

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 (NFE) allele frequency at 95% confidence interval = 0.372 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: 0.318 AC: 48330 AN: 151854 Hom.: 8399 Cov.: 31

Gnomad AFR AF: 0.202

Gnomad AMI AF: 0.374

Gnomad AMR AF: 0.282

Gnomad ASJ AF: 0.331

Gnomad EAS AF: 0.190

Gnomad SAS AF: 0.313

Gnomad FIN AF: 0.516

Gnomad MID AF: 0.363

Gnomad NFE AF: 0.376

Gnomad OTH AF: 0.278

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

GnomAD4 genome AF: 0.318 AC: 48341 AN: 151972 Hom.: 8399 Cov.: 31 AF XY: 0.323 AC XY: 24011 AN XY: 74286

Gnomad4 AFR AF: 0.201

Gnomad4 AMR AF: 0.282

Gnomad4 ASJ AF: 0.331

Gnomad4 EAS AF: 0.191

Gnomad4 SAS AF: 0.314

Gnomad4 FIN AF: 0.516

Gnomad4 NFE AF: 0.376

Gnomad4 OTH AF: 0.277

Alfa AF: 0.281 Hom.: 1088

Bravo AF: 0.291

Asia WGS AF: 0.239 AC: 833 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.090
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs184054; hg19: chr6-32949962;