10-73949409-T-TTTTATTTA

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

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

• Frequency: Genomes: 𝑓 0.00072 (1 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.143

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.000719 AC: 97 AN: 134926 Hom.: 1 Cov.: 0

Gnomad AFR AF: 0.000471

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000306

Gnomad ASJ AF: 0.000603

Gnomad EAS AF: 0.00109

Gnomad SAS AF: 0.000734

Gnomad FIN AF: 0.000705

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000956

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.000719 AC: 97 AN: 134964 Hom.: 1 Cov.: 0 AF XY: 0.000696 AC XY: 45 AN XY: 64628

Gnomad4 AFR AF: 0.000470

Gnomad4 AMR AF: 0.000306

Gnomad4 ASJ AF: 0.000603

Gnomad4 EAS AF: 0.00109

Gnomad4 SAS AF: 0.000737

Gnomad4 FIN AF: 0.000705

Gnomad4 NFE AF: 0.000956

Gnomad4 OTH AF: 0.00

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;