rs28891168

Variant names:

• chr11-23445820-T-A
• rs28891168

Your query was ambiguous. Multiple possible variants found:

• chr11-23445820-T-A
• chr11-23445820-T-C
• chr11-23445820-T-G

Variant summary

Our verdict is Likely benign. The variant received -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
• Publications: 0 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.750 AC: 62493 AN: 83356 Hom.: 24549 Cov.: 12

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

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.594 AC: 13865 AN: 23330

American (AMR) AF: 0.686 AC: 5239 AN: 7634

Ashkenazi Jewish (ASJ) AF: 0.799 AC: 1717 AN: 2148

East Asian (EAS) AF: 0.993 AC: 2531 AN: 2550

South Asian (SAS) AF: 0.831 AC: 1563 AN: 1880

European-Finnish (FIN) AF: 0.751 AC: 3457 AN: 4604

Middle Eastern (MID) AF: 0.799 AC: 155 AN: 194

European-Non Finnish (NFE) AF: 0.833 AC: 32747 AN: 39334

Other (OTH) AF: 0.710 AC: 778 AN: 1096

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

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
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs28891168; hg19: chr11-23467366;