X-114580342-G-T
Variant names:
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The variant allele was found at a frequency of 0.00000925 in 108,152 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. 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 0.0000092 ( 0 hom., 1 hem., cov: 21)
Consequence
Unknown
Scores
1
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.123
Publications
0 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=-0.94).
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 0.00000925 AC: 1AN: 108102Hom.: 0 Cov.: 21 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
108102
Hom.:
Cov.:
21
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.00000925 AC: 1AN: 108152Hom.: 0 Cov.: 21 AF XY: 0.0000327 AC XY: 1AN XY: 30560 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
108152
Hom.:
Cov.:
21
AF XY:
AC XY:
1
AN XY:
30560
show subpopulations
African (AFR)
AF:
AC:
0
AN:
29696
American (AMR)
AF:
AC:
0
AN:
10056
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2615
East Asian (EAS)
AF:
AC:
0
AN:
3406
South Asian (SAS)
AF:
AC:
1
AN:
2447
European-Finnish (FIN)
AF:
AC:
0
AN:
5403
Middle Eastern (MID)
AF:
AC:
0
AN:
214
European-Non Finnish (NFE)
AF:
AC:
0
AN:
52176
Other (OTH)
AF:
AC:
0
AN:
1467
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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