rs779421821
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001013836.2(MAD1L1):c.1958C>T(p.Ser653Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,606 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001013836.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAD1L1 | ENST00000265854.12 | c.1958C>T | p.Ser653Leu | missense_variant | Exon 18 of 19 | 1 | NM_001013836.2 | ENSP00000265854.7 | ||
ENSG00000286192 | ENST00000651235.1 | n.*4718C>T | non_coding_transcript_exon_variant | Exon 23 of 24 | ENSP00000498895.1 | |||||
ENSG00000286192 | ENST00000651235.1 | n.*4718C>T | 3_prime_UTR_variant | Exon 23 of 24 | ENSP00000498895.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461606Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727074
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at