rs276789

chr21-7954268-T-Cchr21-7954268-T-G

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 0.76 (38835 hom., cov: 123)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (Cadd=11.31).

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: 112966 AN: 148378 Hom.: 38777 Cov.: 123 FAILED QC

Gnomad AFR AF: 0.908

Gnomad AMI AF: 0.709

Gnomad AMR AF: 0.761

Gnomad ASJ AF: 0.667

Gnomad EAS AF: 0.818

Gnomad SAS AF: 0.785

Gnomad FIN AF: 0.656

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.687

Gnomad OTH AF: 0.750

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

GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.762 AC: 113080 AN: 148490 Hom.: 38835 Cov.: 123 AF XY: 0.761 AC XY: 55185 AN XY: 72528

Gnomad4 AFR AF: 0.908

Gnomad4 AMR AF: 0.761

Gnomad4 ASJ AF: 0.667

Gnomad4 EAS AF: 0.818

Gnomad4 SAS AF: 0.785

Gnomad4 FIN AF: 0.656

Gnomad4 NFE AF: 0.687

Gnomad4 OTH AF: 0.749

Alfa AF: 0.855 Hom.: 4207

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
Cadd	Benign	11

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs276789; hg19: -;