14-50247181-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP4_ModerateBP6BP7BS1
The NM_024884.3(L2HGDH):āc.1269A>Gā(p.Ala423Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00017 in 1,614,170 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_024884.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
L2HGDH | ENST00000267436.9 | c.1269A>G | p.Ala423Ala | synonymous_variant | Exon 10 of 10 | 1 | NM_024884.3 | ENSP00000267436.4 | ||
L2HGDH | ENST00000261699.8 | c.1197-9456A>G | intron_variant | Intron 9 of 9 | 1 | ENSP00000261699.4 | ||||
L2HGDH | ENST00000421284.7 | c.1269A>G | p.Ala423Ala | synonymous_variant | Exon 10 of 11 | 2 | ENSP00000405559.3 |
Frequencies
GnomAD3 genomes AF: 0.000269 AC: 41AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000593 AC: 149AN: 251228Hom.: 1 AF XY: 0.000545 AC XY: 74AN XY: 135798
GnomAD4 exome AF: 0.000159 AC: 232AN: 1461864Hom.: 1 Cov.: 32 AF XY: 0.000157 AC XY: 114AN XY: 727230
GnomAD4 genome AF: 0.000276 AC: 42AN: 152306Hom.: 0 Cov.: 33 AF XY: 0.000430 AC XY: 32AN XY: 74476
ClinVar
Submissions by phenotype
not specified Uncertain:1
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L-2-hydroxyglutaric aciduria Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at