10-73949409-TTTTA-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 0.50 (17278 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 (NFE) allele frequency at 95% confidence interval = 0.539 is higher than 0.05.

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: 0.501 AC: 67320 AN: 134420 Hom.: 17273 Cov.: 0

Gnomad AFR AF: 0.444

Gnomad AMI AF: 0.735

Gnomad AMR AF: 0.449

Gnomad ASJ AF: 0.424

Gnomad EAS AF: 0.335

Gnomad SAS AF: 0.496

Gnomad FIN AF: 0.618

Gnomad MID AF: 0.517

Gnomad NFE AF: 0.544

Gnomad OTH AF: 0.471

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

GnomAD4 genome AF: 0.501 AC: 67340 AN: 134452 Hom.: 17278 Cov.: 0 AF XY: 0.501 AC XY: 32247 AN XY: 64378

Gnomad4 AFR AF: 0.445

Gnomad4 AMR AF: 0.448

Gnomad4 ASJ AF: 0.424

Gnomad4 EAS AF: 0.335

Gnomad4 SAS AF: 0.496

Gnomad4 FIN AF: 0.618

Gnomad4 NFE AF: 0.544

Gnomad4 OTH AF: 0.472

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;