rs5786130

chr10-73949409-TTTTATTTATTTA-Tchr10-73949409-T-TTTTAchr10-73949409-TTTTATTTA-Tchr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-Tchr10-73949409-TTTTATTTATTTATTTATTTATTTA-Tchr10-73949409-TTTTATTTATTTATTTA-Tchr10-73949409-T-TTTTATTTAchr10-73949409-TTTTATTTATTTATTTATTTA-Tchr10-73949409-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 0.12 (1100 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 (AFR) allele frequency at 95% confidence interval = 0.175 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: 0.120 AC: 16202 AN: 134808 Hom.: 1098 Cov.: 0

Gnomad AFR AF: 0.179

Gnomad AMI AF: 0.0168

Gnomad AMR AF: 0.110

Gnomad ASJ AF: 0.159

Gnomad EAS AF: 0.0527

Gnomad SAS AF: 0.0634

Gnomad FIN AF: 0.0565

Gnomad MID AF: 0.100

Gnomad NFE AF: 0.103

Gnomad OTH AF: 0.144

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

GnomAD4 genome AF: 0.120 AC: 16215 AN: 134844 Hom.: 1100 Cov.: 0 AF XY: 0.117 AC XY: 7586 AN XY: 64568

Gnomad4 AFR AF: 0.179

Gnomad4 AMR AF: 0.110

Gnomad4 ASJ AF: 0.159

Gnomad4 EAS AF: 0.0526

Gnomad4 SAS AF: 0.0642

Gnomad4 FIN AF: 0.0565

Gnomad4 NFE AF: 0.104

Gnomad4 OTH AF: 0.143

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;