chr3-41089171-TTGTC-T

Variant names:

• chr3-41089171-TTGTC-T
• rs2067180

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 0.45 (16433 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.966

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.541 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: 0.451 AC: 68283 AN: 151378 Hom.: 16424 Cov.: 0

Gnomad AFR AF: 0.325

Gnomad AMI AF: 0.509

Gnomad AMR AF: 0.420

Gnomad ASJ AF: 0.413

Gnomad EAS AF: 0.242

Gnomad SAS AF: 0.277

Gnomad FIN AF: 0.574

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.546

Gnomad OTH AF: 0.457

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

GnomAD4 genome AF: 0.451 AC: 68327 AN: 151496 Hom.: 16433 Cov.: 0 AF XY: 0.444 AC XY: 32830 AN XY: 74012

Gnomad4 AFR AF: 0.325

Gnomad4 AMR AF: 0.421

Gnomad4 ASJ AF: 0.413

Gnomad4 EAS AF: 0.242

Gnomad4 SAS AF: 0.276

Gnomad4 FIN AF: 0.574

Gnomad4 NFE AF: 0.546

Gnomad4 OTH AF: 0.454

Alfa AF: 0.488 Hom.: 2275

Bravo AF: 0.439

Asia WGS AF: 0.290 AC: 1010 AN: 3478

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: rs2067180; hg19: chr3-41130662;