rs276789

Variant names:

• chr21-7954268-T-C
• rs276789

Your query was ambiguous. Multiple possible variants found:

• chr21-7954268-T-C
• chr21-7954268-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 0.76 (38835 hom., cov: 123)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 1 publications found

ACMG classification

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

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

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.761 AC: 112966 AN: 148378 Hom.: 38777 Cov.: 123

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

African (AFR) AF: 0.908 AC: 37219 AN: 40972

American (AMR) AF: 0.761 AC: 11301 AN: 14848

Ashkenazi Jewish (ASJ) AF: 0.667 AC: 2249 AN: 3370

East Asian (EAS) AF: 0.818 AC: 4103 AN: 5014

South Asian (SAS) AF: 0.785 AC: 3685 AN: 4692

European-Finnish (FIN) AF: 0.656 AC: 6754 AN: 10288

Middle Eastern (MID) AF: 0.693 AC: 201 AN: 290

European-Non Finnish (NFE) AF: 0.687 AC: 45432 AN: 66118

Other (OTH) AF: 0.749 AC: 1519 AN: 2028

Alfa AF: 0.855 Hom.: 4207

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
CADD	Benign	11

Splicing

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

Other links and lift over

dbSNP: rs276789;