rs1060505031
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP3_ModeratePP5
The NM_001696.4(ATP6V1E1):c.383T>C(p.Leu128Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L128V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001696.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATP6V1E1 | NM_001696.4 | c.383T>C | p.Leu128Pro | missense_variant | 6/9 | ENST00000253413.10 | |
ATP6V1E1 | NM_001039366.1 | c.317T>C | p.Leu106Pro | missense_variant | 5/8 | ||
ATP6V1E1 | NM_001039367.1 | c.293T>C | p.Leu98Pro | missense_variant | 5/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATP6V1E1 | ENST00000253413.10 | c.383T>C | p.Leu128Pro | missense_variant | 6/9 | 1 | NM_001696.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Autosomal recessive cutis laxa type 2C Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Mar 22, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at