14-105529712-TGCCGCCGCCGCC-TGCCGCCGCCGCCGCCGCCGCC
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_025268.4(TMEM121):c.890_898dupCGCCGCCGC(p.Pro297_Pro299dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 0)
Exomes 𝑓: 7.3e-7 ( 0 hom. )
Consequence
TMEM121
NM_025268.4 disruptive_inframe_insertion
NM_025268.4 disruptive_inframe_insertion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.501
Publications
0 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_025268.4. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| TMEM121 | NM_025268.4 | MANE Select | c.890_898dupCGCCGCCGC | p.Pro297_Pro299dup | disruptive_inframe_insertion | Exon 2 of 2 | NP_079544.1 | ||
| TMEM121 | NM_001331238.2 | c.890_898dupCGCCGCCGC | p.Pro297_Pro299dup | disruptive_inframe_insertion | Exon 2 of 2 | NP_001318167.1 |
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| TMEM121 | ENST00000392519.7 | TSL:1 MANE Select | c.890_898dupCGCCGCCGC | p.Pro297_Pro299dup | disruptive_inframe_insertion | Exon 2 of 2 | ENSP00000376304.2 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
0
GnomAD4 exome AF: 7.27e-7 AC: 1AN: 1375900Hom.: 0 Cov.: 12 AF XY: 0.00 AC XY: 0AN XY: 678950 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
GnomAD4 exome
AF:
AC:
1
AN:
1375900
Hom.:
Cov.:
12
AF XY:
AC XY:
0
AN XY:
678950
show subpopulations
⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
African (AFR)
AF:
AC:
0
AN:
30462
American (AMR)
AF:
AC:
0
AN:
34708
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
24678
East Asian (EAS)
AF:
AC:
0
AN:
35174
South Asian (SAS)
AF:
AC:
0
AN:
78376
European-Finnish (FIN)
AF:
AC:
1
AN:
34258
Middle Eastern (MID)
AF:
AC:
0
AN:
5378
European-Non Finnish (NFE)
AF:
AC:
0
AN:
1075456
Other (OTH)
AF:
AC:
0
AN:
57410
⚠️ The allele balance in gnomAD4 Exomes is highly skewed from 0.5 (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.325
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome
GnomAD4 genome
Cov.:
0
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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