17-62735937-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152598.4(MARCHF10):āc.1931A>Cā(p.Gln644Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000188 in 1,595,212 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 (ā ).
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.1931A>C | p.Gln644Pro | missense_variant | Exon 6 of 11 | ENST00000311269.10 | NP_689811.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000562 AC: 13AN: 231358Hom.: 0 AF XY: 0.0000320 AC XY: 4AN XY: 125184
GnomAD4 exome AF: 0.0000194 AC: 28AN: 1442860Hom.: 0 Cov.: 32 AF XY: 0.0000195 AC XY: 14AN XY: 717176
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1931A>C (p.Q644P) alteration is located in exon 6 (coding exon 5) of the MARCH10 gene. This alteration results from a A to C substitution at nucleotide position 1931, causing the glutamine (Q) at amino acid position 644 to be replaced by a proline (P). 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