NM_005797.4:c.416G>A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_005797.4(MPZL2):c.416G>A(p.Arg139Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00108 in 1,614,018 control chromosomes in the GnomAD database, including 31 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_005797.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MPZL2 | NM_005797.4 | c.416G>A | p.Arg139Gln | missense_variant | Exon 3 of 6 | ENST00000278937.7 | NP_005788.1 | |
MPZL2 | NM_144765.3 | c.416G>A | p.Arg139Gln | missense_variant | Exon 3 of 5 | NP_658911.1 | ||
MPZL2 | XM_047426229.1 | c.372+44G>A | intron_variant | Intron 3 of 3 | XP_047282185.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000926 AC: 141AN: 152188Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00147 AC: 370AN: 250932Hom.: 6 AF XY: 0.00152 AC XY: 206AN XY: 135648
GnomAD4 exome AF: 0.00109 AC: 1598AN: 1461712Hom.: 29 Cov.: 31 AF XY: 0.00112 AC XY: 818AN XY: 727162
GnomAD4 genome AF: 0.000932 AC: 142AN: 152306Hom.: 2 Cov.: 32 AF XY: 0.00101 AC XY: 75AN XY: 74474
ClinVar
Submissions by phenotype
MPZL2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at