21-9868128-G-A

Position:

• chr21-9868128-G-A

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 0.24 (2 hom., cov: 87)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.935

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (Cadd=6.682).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.00 AC: 26542 AN: 111808 Hom.: 2 Cov.: 87 FAILED QC

Gnomad AFR AF: 0.111

Gnomad AMI AF: 0.379

Gnomad AMR AF: 0.281

Gnomad ASJ AF: 0.342

Gnomad EAS AF: 0.0324

Gnomad SAS AF: 0.206

Gnomad FIN AF: 0.330

Gnomad MID AF: 0.309

Gnomad NFE AF: 0.315

Gnomad OTH AF: 0.260

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: 0.237 AC: 26551 AN: 111920 Hom.: 2 Cov.: 87 AF XY: 0.236 AC XY: 12964 AN XY: 54890

Gnomad4 AFR AF: 0.111

Gnomad4 AMR AF: 0.281

Gnomad4 ASJ AF: 0.342

Gnomad4 EAS AF: 0.0322

Gnomad4 SAS AF: 0.208

Gnomad4 FIN AF: 0.330

Gnomad4 NFE AF: 0.315

Gnomad4 OTH AF: 0.254

Alfa AF: 0.268 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
CADD	Benign	6.7

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs376187; hg19: chr4_gl000193_random-135442;