8-7894605-T-C

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.36 (549 hom., cov: 15)
  • Exomes 𝑓: 0.42 (9311 hom.)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.08

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).

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: 0.00 AC: 35662 AN: 100250 Hom.: 547 Cov.: 15 FAILED QC

Gnomad AFR AF: 0.266

Gnomad AMI AF: 0.370

Gnomad AMR AF: 0.329

Gnomad ASJ AF: 0.382

Gnomad EAS AF: 0.408

Gnomad SAS AF: 0.351

Gnomad FIN AF: 0.405

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.401

Gnomad OTH AF: 0.348

GnomAD4 exome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.417 AC: 432858 AN: 1038982 Hom.: 9311 Cov.: 16 AF XY: 0.417 AC XY: 218303 AN XY: 524118

Gnomad4 AFR exome AF: 0.288

Gnomad4 AMR exome AF: 0.350

Gnomad4 ASJ exome AF: 0.409

Gnomad4 EAS exome AF: 0.464

Gnomad4 SAS exome AF: 0.412

Gnomad4 FIN exome AF: 0.417

Gnomad4 NFE exome AF: 0.423

Gnomad4 OTH exome AF: 0.408

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR;InbreedingCoeff AF: 0.356 AC: 35699 AN: 100356 Hom.: 549 Cov.: 15 AF XY: 0.357 AC XY: 17225 AN XY: 48264

Gnomad4 AFR AF: 0.266

Gnomad4 AMR AF: 0.329

Gnomad4 ASJ AF: 0.382

Gnomad4 EAS AF: 0.408

Gnomad4 SAS AF: 0.353

Gnomad4 FIN AF: 0.405

Gnomad4 NFE AF: 0.401

Gnomad4 OTH AF: 0.348

Alfa AF: 0.358 Hom.: 188

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
Cadd	Benign	0.29
Dann	Benign	0.35

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs2740086; hg19: chr8-7752127; COSMIC: COSV56362382;