rs17231506
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.671
Publications
78 publications found
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
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
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 328178Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 187218
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
328178
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
187218
African (AFR)
AF:
AC:
0
AN:
9598
American (AMR)
AF:
AC:
0
AN:
30056
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
11056
East Asian (EAS)
AF:
AC:
0
AN:
11258
South Asian (SAS)
AF:
AC:
0
AN:
61346
European-Finnish (FIN)
AF:
AC:
0
AN:
14334
Middle Eastern (MID)
AF:
AC:
0
AN:
2810
European-Non Finnish (NFE)
AF:
AC:
0
AN:
172500
Other (OTH)
AF:
AC:
0
AN:
15220
GnomAD4 genome
GnomAD4 genome
Cov.:
32
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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