1-39084253-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012090.5(MACF1):c.35G>T(p.Arg12Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,536 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R12Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_012090.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MACF1 | ENST00000567887.5 | c.35G>T | p.Arg12Leu | missense_variant | Exon 1 of 101 | 5 | ENSP00000455823.1 | |||
MACF1 | ENST00000372915.8 | c.35G>T | p.Arg12Leu | missense_variant | Exon 1 of 96 | 5 | ENSP00000362006.4 | |||
MACF1 | ENST00000361689.7 | c.35G>T | p.Arg12Leu | missense_variant | Exon 2 of 94 | 5 | ENSP00000354573.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251092Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135762
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460536Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726652
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at