rs28891168

chr11-23445820-T-Achr11-23445820-T-Cchr11-23445820-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 0.75 (24551 hom., cov: 12)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).

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: 62493 AN: 83356 Hom.: 24549 Cov.: 12 FAILED QC

Gnomad AFR AF: 0.594

Gnomad AMI AF: 0.750

Gnomad AMR AF: 0.686

Gnomad ASJ AF: 0.799

Gnomad EAS AF: 0.993

Gnomad SAS AF: 0.831

Gnomad FIN AF: 0.751

Gnomad MID AF: 0.804

Gnomad NFE AF: 0.832

Gnomad OTH AF: 0.706

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: AS_VQSR AF: 0.750 AC: 62511 AN: 83382 Hom.: 24551 Cov.: 12 AF XY: 0.737 AC XY: 28433 AN XY: 38570

Gnomad4 AFR AF: 0.594

Gnomad4 AMR AF: 0.686

Gnomad4 ASJ AF: 0.799

Gnomad4 EAS AF: 0.993

Gnomad4 SAS AF: 0.831

Gnomad4 FIN AF: 0.751

Gnomad4 NFE AF: 0.833

Gnomad4 OTH AF: 0.710

Alfa AF: 0.826 Hom.: 5681

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
Cadd	Benign	1.4
Dann	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs28891168; hg19: chr11-23467366;