6-32982185-G-T

Variant names:

• chr6-32982185-G-T
• rs184054

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 0.318 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
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.201 AC: 8349 AN: 41446

American (AMR) AF: 0.282 AC: 4311 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.331 AC: 1148 AN: 3468

East Asian (EAS) AF: 0.191 AC: 987 AN: 5178

South Asian (SAS) AF: 0.314 AC: 1512 AN: 4816

European-Finnish (FIN) AF: 0.516 AC: 5427 AN: 10510

Middle Eastern (MID) AF: 0.366 AC: 107 AN: 292

European-Non Finnish (NFE) AF: 0.376 AC: 25575 AN: 67954

Other (OTH) AF: 0.277 AC: 584 AN: 2112

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.090
DANN	Benign	0.72
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs184054; hg19: chr6-32949962;