chr19-8426764-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001005415.2(MARCHF2):c.332C>T(p.Thr111Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000564 in 1,612,338 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005415.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MARCHF2 | NM_001005415.2 | c.332C>T | p.Thr111Met | missense_variant | Exon 3 of 5 | ENST00000215555.7 | NP_001005415.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152078Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251340Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135860
GnomAD4 exome AF: 0.0000596 AC: 87AN: 1460260Hom.: 0 Cov.: 31 AF XY: 0.0000564 AC XY: 41AN XY: 726434
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152078Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74274
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.332C>T (p.T111M) alteration is located in exon 4 (coding exon 2) of the MARCH2 gene. This alteration results from a C to T substitution at nucleotide position 332, causing the threonine (T) at amino acid position 111 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