chr1-11846010-CA-TG
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_006172.4(NPPA):c.454_455delTGinsCA(p.Ter152Glnext*?) variant causes a stop lost change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006172.4 stop_lost
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NPPA | ENST00000376480.7 | c.454_455delTGinsCA | p.Ter152Glnext*? | stop_lost | 1 | NM_006172.4 | ENSP00000365663.3 | |||
CLCN6 | ENST00000446542.5 | n.781+244_781+245delCAinsTG | intron_variant | Intron 3 of 3 | 1 | |||||
NPPA | ENST00000376476.1 | c.304_305delTGinsCA | p.Ter102Glnext*? | stop_lost | 3 | ENSP00000365659.1 | ||||
CLCN6 | ENST00000400892.3 | n.*1961+244_*1961+245delCAinsTG | intron_variant | Intron 26 of 26 | 3 | ENSP00000496938.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Atrial fibrillation, familial, 6 Uncertain:1
This sequence change disrupts the translational stop signal of the NPPA mRNA. It is expected to extend the length of the NPPA protein by 2 additional amino acid residues. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NPPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1460707). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.