12-57755817-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138396.6(MARCHF9):c.289C>G(p.Leu97Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MARCHF9 | ENST00000266643.6 | c.289C>G | p.Leu97Val | missense_variant | Exon 1 of 4 | 1 | NM_138396.6 | ENSP00000266643.5 | ||
CDK4 | ENST00000552862.1 | c.-20+115G>C | intron_variant | Intron 1 of 2 | 3 | ENSP00000446763.1 | ||||
MARCHF9 | ENST00000552279.1 | n.90C>G | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.289C>G (p.L97V) alteration is located in exon 1 (coding exon 1) of the MARCH9 gene. This alteration results from a C to G substitution at nucleotide position 289, causing the leucine (L) at amino acid position 97 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.