rs730882177
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PM5PP3_ModeratePP5
The NM_001693.4(ATP6V1B2):c.1454G>C(p.Arg485Pro) 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. R485L) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001693.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATP6V1B2 | NM_001693.4 | c.1454G>C | p.Arg485Pro | missense_variant | 14/14 | ENST00000276390.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATP6V1B2 | ENST00000276390.7 | c.1454G>C | p.Arg485Pro | missense_variant | 14/14 | 1 | NM_001693.4 | P1 | |
ATP6V1B2 | ENST00000523482.5 | n.5538G>C | non_coding_transcript_exon_variant | 11/11 | 2 | ||||
ATP6V1B2 | ENST00000521442.1 | c.101+2038G>C | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Zimmermann-Laband syndrome 1 Pathogenic:1
Pathogenic, no assertion criteria provided | not provided | Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità | - | - - |
Zimmermann-Laband syndrome 2 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jun 01, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at