2-216277675-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020814.3(MARCHF4):āc.862A>Cā(p.Ile288Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000549 in 1,456,428 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_020814.3 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 |
---|---|---|---|---|---|---|---|---|
MARCHF4 | NM_020814.3 | c.862A>C | p.Ile288Leu | missense_variant | Exon 3 of 4 | ENST00000273067.5 | NP_065865.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000549 AC: 8AN: 1456428Hom.: 0 Cov.: 31 AF XY: 0.00000691 AC XY: 5AN XY: 723592
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.862A>C (p.I288L) alteration is located in exon 3 (coding exon 3) of the MARCH4 gene. This alteration results from a A to C substitution at nucleotide position 862, causing the isoleucine (I) at amino acid position 288 to be replaced by a leucine (L). 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.