10-73949409-TTTTATTTA-T

Position:

• chr10-73949409-TTTTATTTA-T

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 0.22 (3740 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.639

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.507 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.218 AC: 29363 AN: 134724 Hom.: 3738 Cov.: 0

Gnomad AFR AF: 0.256

Gnomad AMI AF: 0.0647

Gnomad AMR AF: 0.298

Gnomad ASJ AF: 0.272

Gnomad EAS AF: 0.523

Gnomad SAS AF: 0.290

Gnomad FIN AF: 0.132

Gnomad MID AF: 0.240

Gnomad NFE AF: 0.162

Gnomad OTH AF: 0.212

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

GnomAD4 genome AF: 0.218 AC: 29361 AN: 134762 Hom.: 3740 Cov.: 0 AF XY: 0.220 AC XY: 14192 AN XY: 64530

Gnomad4 AFR AF: 0.256

Gnomad4 AMR AF: 0.298

Gnomad4 ASJ AF: 0.272

Gnomad4 EAS AF: 0.524

Gnomad4 SAS AF: 0.289

Gnomad4 FIN AF: 0.132

Gnomad4 NFE AF: 0.162

Gnomad4 OTH AF: 0.213

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: rs3998225; hg19: chr10-75709167;