11-118240317-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198275.3(MPZL3):c.134G>C(p.Gly45Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00048 in 1,608,738 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198275.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MPZL3 | ENST00000278949.9 | c.134G>C | p.Gly45Ala | missense_variant | Exon 2 of 6 | 1 | NM_198275.3 | ENSP00000278949.4 | ||
MPZL3 | ENST00000527472.1 | c.98G>C | p.Gly33Ala | missense_variant | Exon 2 of 6 | 1 | ENSP00000432106.1 | |||
MPZL3 | ENST00000525386.5 | c.74-6794G>C | intron_variant | Intron 1 of 2 | 1 | ENSP00000434636.1 | ||||
MPZL3 | ENST00000446386.2 | n.134G>C | non_coding_transcript_exon_variant | Exon 2 of 5 | 2 | ENSP00000393594.2 |
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000216 AC: 53AN: 245476Hom.: 0 AF XY: 0.000218 AC XY: 29AN XY: 132852
GnomAD4 exome AF: 0.000494 AC: 720AN: 1456560Hom.: 0 Cov.: 33 AF XY: 0.000475 AC XY: 344AN XY: 724580
GnomAD4 genome AF: 0.000342 AC: 52AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.000296 AC XY: 22AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.134G>C (p.G45A) alteration is located in exon 2 (coding exon 2) of the MPZL3 gene. This alteration results from a G to C substitution at nucleotide position 134, causing the glycine (G) at amino acid position 45 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at