5-16177799-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001102562.3(MARCHF11):c.620G>A(p.Arg207Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,530 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001102562.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MARCHF11 | ENST00000332432.9 | c.620G>A | p.Arg207Lys | missense_variant | Exon 2 of 4 | 5 | NM_001102562.3 | ENSP00000333181.7 | ||
MARCHF11 | ENST00000507111.1 | c.29G>A | p.Arg10Lys | missense_variant | Exon 1 of 2 | 3 | ENSP00000424425.1 | |||
MARCHF11 | ENST00000505509.1 | n.201G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461530Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727062
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.620G>A (p.R207K) alteration is located in exon 2 (coding exon 2) of the MARCH11 gene. This alteration results from a G to A substitution at nucleotide position 620, causing the arginine (R) at amino acid position 207 to be replaced by a lysine (K). 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