17-62725063-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_152598.4(MARCHF10):c.1979G>A(p.Arg660His) variant causes a missense change. The variant allele was found at a frequency of 0.000226 in 1,604,400 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_152598.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MARCHF10 | NM_152598.4 | c.1979G>A | p.Arg660His | missense_variant | Exon 7 of 11 | ENST00000311269.10 | NP_689811.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000171 AC: 41AN: 240404Hom.: 0 AF XY: 0.000138 AC XY: 18AN XY: 130340
GnomAD4 exome AF: 0.000233 AC: 339AN: 1452098Hom.: 0 Cov.: 31 AF XY: 0.000192 AC XY: 139AN XY: 722392
GnomAD4 genome AF: 0.000158 AC: 24AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1979G>A (p.R660H) alteration is located in exon 7 (coding exon 6) of the MARCH10 gene. This alteration results from a G to A substitution at nucleotide position 1979, causing the arginine (R) at amino acid position 660 to be replaced by a histidine (H). 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