chr4-102669004-G-C
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B.
The NM_005908.4(MANBA):c.1276C>G(p.Gln426Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,461,466 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 17/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005908.4 missense
Scores
Clinical Significance
Conservation
Publications
- beta-mannosidosisInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: G2P, Labcorp Genetics (formerly Invitae), Orphanet, ClinGen, Genomics England PanelApp, Ambry Genetics
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MANBA | NM_005908.4 | c.1276C>G | p.Gln426Glu | missense_variant | Exon 10 of 17 | ENST00000647097.2 | NP_005899.3 | |
MANBA | XM_047415692.1 | c.1201C>G | p.Gln401Glu | missense_variant | Exon 11 of 18 | XP_047271648.1 | ||
MANBA | XM_047415693.1 | c.1201C>G | p.Gln401Glu | missense_variant | Exon 11 of 18 | XP_047271649.1 | ||
MANBA | XM_047415694.1 | c.628C>G | p.Gln210Glu | missense_variant | Exon 6 of 13 | XP_047271650.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.0000159 AC: 4AN: 250898 AF XY: 0.0000148 show subpopulations
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461466Hom.: 1 Cov.: 30 AF XY: 0.0000193 AC XY: 14AN XY: 727002 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at