NM_024101.7:c.336C>T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 2P and 11B. PM2BP4_StrongBP6_ModerateBP7BS1
The NM_024101.7(MLPH):c.336C>T(p.Val112Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000911 in 1,613,388 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 (★).
Frequency
Consequence
NM_024101.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 151760Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000836 AC: 21AN: 251276Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135796
GnomAD4 exome AF: 0.0000889 AC: 130AN: 1461510Hom.: 0 Cov.: 33 AF XY: 0.0000812 AC XY: 59AN XY: 727034
GnomAD4 genome AF: 0.000112 AC: 17AN: 151878Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74258
ClinVar
Submissions by phenotype
not provided Benign:1
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MLPH-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