rs555482480
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 2P and 17B. PM2BP4_StrongBP6_Very_StrongBP7BS1
The NM_012213.3(MLYCD):c.507G>A(p.Leu169=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000842 in 1,541,348 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. L169L) has been classified as Likely benign.
Frequency
Consequence
NM_012213.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MLYCD | NM_012213.3 | c.507G>A | p.Leu169= | synonymous_variant | 1/5 | ENST00000262430.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MLYCD | ENST00000262430.6 | c.507G>A | p.Leu169= | synonymous_variant | 1/5 | 1 | NM_012213.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000860 AC: 131AN: 152274Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00103 AC: 140AN: 136154Hom.: 0 AF XY: 0.00106 AC XY: 80AN XY: 75684
GnomAD4 exome AF: 0.000840 AC: 1167AN: 1388956Hom.: 0 Cov.: 30 AF XY: 0.000820 AC XY: 563AN XY: 686676
GnomAD4 genome ? AF: 0.000860 AC: 131AN: 152392Hom.: 1 Cov.: 33 AF XY: 0.000778 AC XY: 58AN XY: 74530
ClinVar
Submissions by phenotype
Deficiency of malonyl-CoA decarboxylase Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 12, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | May 15, 2018 | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | May 01, 2023 | MLYCD: BP4, BP7 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at