rs28383206

Variant names:

• chr6-32607390-A-G
• rs28383206

Your query was ambiguous. Multiple possible variants found:

• chr6-32607390-A-G
• chr6-32607390-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

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 0.30 (5627 hom., cov: 9)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.131

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 = 0.334 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: 0.304 AC: 20148 AN: 66340 Hom.: 5628 Cov.: 9

Gnomad AFR AF: 0.254

Gnomad AMI AF: 0.589

Gnomad AMR AF: 0.269

Gnomad ASJ AF: 0.414

Gnomad EAS AF: 0.0796

Gnomad SAS AF: 0.215

Gnomad FIN AF: 0.307

Gnomad MID AF: 0.281

Gnomad NFE AF: 0.339

Gnomad OTH AF: 0.342

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

GnomAD4 genome AF: 0.304 AC: 20143 AN: 66368 Hom.: 5627 Cov.: 9 AF XY: 0.289 AC XY: 8991 AN XY: 31102

Gnomad4 AFR AF: 0.254

Gnomad4 AMR AF: 0.268

Gnomad4 ASJ AF: 0.414

Gnomad4 EAS AF: 0.0797

Gnomad4 SAS AF: 0.213

Gnomad4 FIN AF: 0.307

Gnomad4 NFE AF: 0.339

Gnomad4 OTH AF: 0.335

Alfa AF: 0.138 Hom.: 167

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	6.7
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs28383206; hg19: chr6-32575167;