chr12-57756975-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_138396.6(MARCHF9):c.404C>T(p.Thr135Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000207 in 1,446,840 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138396.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000446 AC: 1AN: 224030Hom.: 0 AF XY: 0.00000821 AC XY: 1AN XY: 121744
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1446840Hom.: 0 Cov.: 30 AF XY: 0.00000278 AC XY: 2AN XY: 718780
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.404C>T (p.T135M) alteration is located in exon 2 (coding exon 2) of the MARCH9 gene. This alteration results from a C to T substitution at nucleotide position 404, causing the threonine (T) at amino acid position 135 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at