3-191728221-CTA-CTATA

Variant names:

• chr3-191728221-C-CTA
• rs2308237

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.30 (7125 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.335

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.396 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: 0.300 AC: 45498 AN: 151656 Hom.: 7114 Cov.: 0

Gnomad AFR AF: 0.202

Gnomad AMI AF: 0.435

Gnomad AMR AF: 0.276

Gnomad ASJ AF: 0.350

Gnomad EAS AF: 0.410

Gnomad SAS AF: 0.394

Gnomad FIN AF: 0.398

Gnomad MID AF: 0.222

Gnomad NFE AF: 0.331

Gnomad OTH AF: 0.281

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

GnomAD4 genome AF: 0.300 AC: 45527 AN: 151774 Hom.: 7125 Cov.: 0 AF XY: 0.306 AC XY: 22725 AN XY: 74162

Gnomad4 AFR AF: 0.202

Gnomad4 AMR AF: 0.276

Gnomad4 ASJ AF: 0.350

Gnomad4 EAS AF: 0.411

Gnomad4 SAS AF: 0.394

Gnomad4 FIN AF: 0.398

Gnomad4 NFE AF: 0.331

Gnomad4 OTH AF: 0.284

Alfa AF: 0.315 Hom.: 797

Asia WGS AF: 0.411 AC: 1423 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2308237; hg19: chr3-191446010;