NM_005797.4:c.345C>T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BS1BS2
The NM_005797.4(MPZL2):c.345C>T(p.Phe115Phe) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000328 in 1,614,132 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_005797.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MPZL2 | NM_005797.4 | c.345C>T | p.Phe115Phe | synonymous_variant | Exon 3 of 6 | ENST00000278937.7 | NP_005788.1 | |
MPZL2 | NM_144765.3 | c.345C>T | p.Phe115Phe | synonymous_variant | Exon 3 of 5 | NP_658911.1 | ||
MPZL2 | XM_047426229.1 | c.345C>T | p.Phe115Phe | synonymous_variant | Exon 3 of 4 | XP_047282185.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00185 AC: 281AN: 152152Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000470 AC: 118AN: 251330Hom.: 1 AF XY: 0.000353 AC XY: 48AN XY: 135832
GnomAD4 exome AF: 0.000172 AC: 251AN: 1461862Hom.: 1 Cov.: 31 AF XY: 0.000157 AC XY: 114AN XY: 727230
GnomAD4 genome AF: 0.00183 AC: 279AN: 152270Hom.: 2 Cov.: 32 AF XY: 0.00185 AC XY: 138AN XY: 74456
ClinVar
Submissions by phenotype
MPZL2-related disorder Benign:1
This variant is classified as likely 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