ENST00000715156.1:c.343C>T
Variant names:
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The ENST00000715156.1(ENSG00000293268):c.343C>T(p.Gln115*) variant causes a stop gained change. The variant allele was found at a frequency of 0.0000138 in 145,264 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 0.000014 ( 0 hom., cov: 50)
Consequence
ENSG00000293268
ENST00000715156.1 stop_gained
ENST00000715156.1 stop_gained
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
No conservation score assigned
Publications
1 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| LOC124906262 | XM_047449411.1 | c.343C>T | p.Gln115* | stop_gained | Exon 3 of 3 | XP_047305367.1 | ||
| LOC124906262 | XM_047449412.1 | c.343C>T | p.Gln115* | stop_gained | Exon 3 of 3 | XP_047305368.1 | ||
| LOC124906262 | XM_047449413.1 | c.343C>T | p.Gln115* | stop_gained | Exon 3 of 3 | XP_047305369.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000293268 | ENST00000715156.1 | c.343C>T | p.Gln115* | stop_gained | Exon 2 of 2 | ENSP00000520357.1 | ||||
| ENSG00000293268 | ENST00000715157.1 | c.130C>T | p.Gln44* | stop_gained | Exon 1 of 1 | ENSP00000520358.1 | ||||
| ENSG00000293268 | ENST00000667844.1 | n.730+165C>T | intron_variant | Intron 2 of 2 | ||||||
| ENSG00000293268 | ENST00000685383.1 | n.697+165C>T | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes 0.0000138 AC: 2AN: 145264Hom.: 0 Cov.: 50 show subpopulations
GnomAD3 genomes
AF:
AC:
2
AN:
145264
Hom.:
Cov.:
50
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 0.0000138 AC: 2AN: 145264Hom.: 0 Cov.: 50 AF XY: 0.00 AC XY: 0AN XY: 70874 show subpopulations ⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
GnomAD4 genome
AF:
AC:
2
AN:
145264
Hom.:
Cov.:
50
AF XY:
AC XY:
0
AN XY:
70874
show subpopulations
⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
African (AFR)
AF:
AC:
1
AN:
40062
American (AMR)
AF:
AC:
0
AN:
14472
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3298
East Asian (EAS)
AF:
AC:
0
AN:
4922
South Asian (SAS)
AF:
AC:
0
AN:
4588
European-Finnish (FIN)
AF:
AC:
0
AN:
10040
Middle Eastern (MID)
AF:
AC:
0
AN:
290
European-Non Finnish (NFE)
AF:
AC:
1
AN:
64748
Other (OTH)
AF:
AC:
0
AN:
1990
⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0.000203476), which strongly suggests a high chance of mosaicism in these individuals.
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.375
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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