16-83915431-A-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_012213.3(MLYCD):c.1424A>T(p.Lys475Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000706 in 1,613,684 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K475R) has been classified as Uncertain significance.
Frequency
Consequence
NM_012213.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MLYCD | NM_012213.3 | c.1424A>T | p.Lys475Ile | missense_variant | 5/5 | ENST00000262430.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MLYCD | ENST00000262430.6 | c.1424A>T | p.Lys475Ile | missense_variant | 5/5 | 1 | NM_012213.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000414 AC: 63AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000105 AC: 26AN: 247748Hom.: 0 AF XY: 0.0000963 AC XY: 13AN XY: 134940
GnomAD4 exome AF: 0.0000349 AC: 51AN: 1461324Hom.: 0 Cov.: 30 AF XY: 0.0000371 AC XY: 27AN XY: 726976
GnomAD4 genome AF: 0.000413 AC: 63AN: 152360Hom.: 0 Cov.: 33 AF XY: 0.000389 AC XY: 29AN XY: 74514
ClinVar
Submissions by phenotype
Deficiency of malonyl-CoA decarboxylase Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 11, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at