17-62725028-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152598.4(MARCHF10):c.2014C>T(p.Pro672Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000106 in 1,609,986 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_152598.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MARCHF10 | NM_152598.4 | c.2014C>T | p.Pro672Ser | missense_variant | Exon 7 of 11 | ENST00000311269.10 | NP_689811.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152246Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000447 AC: 11AN: 246230Hom.: 0 AF XY: 0.0000751 AC XY: 10AN XY: 133206
GnomAD4 exome AF: 0.00000823 AC: 12AN: 1457622Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 725054
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152364Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2014C>T (p.P672S) alteration is located in exon 7 (coding exon 6) of the MARCH10 gene. This alteration results from a C to T substitution at nucleotide position 2014, causing the proline (P) at amino acid position 672 to be replaced by a serine (S). 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