17-62705590-A-C
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_152598.4(MARCHF10):c.2329-9T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000462 in 1,613,622 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_152598.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MARCHF10 | NM_152598.4 | c.2329-9T>G | intron_variant | Intron 9 of 10 | ENST00000311269.10 | NP_689811.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00244 AC: 372AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000658 AC: 165AN: 250802Hom.: 0 AF XY: 0.000450 AC XY: 61AN XY: 135584
GnomAD4 exome AF: 0.000255 AC: 373AN: 1461292Hom.: 2 Cov.: 32 AF XY: 0.000210 AC XY: 153AN XY: 726970
GnomAD4 genome AF: 0.00245 AC: 373AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.00242 AC XY: 180AN XY: 74504
ClinVar
Submissions by phenotype
MARCHF10-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at