17-62725011-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_152598.4(MARCHF10):c.2031C>T(p.Cys677Cys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00467 in 1,610,320 control chromosomes in the GnomAD database, including 26 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_152598.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MARCHF10 | NM_152598.4 | c.2031C>T | p.Cys677Cys | synonymous_variant | Exon 7 of 11 | ENST00000311269.10 | NP_689811.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00277 AC: 422AN: 152198Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00236 AC: 582AN: 246700Hom.: 3 AF XY: 0.00226 AC XY: 302AN XY: 133468
GnomAD4 exome AF: 0.00487 AC: 7105AN: 1458004Hom.: 22 Cov.: 31 AF XY: 0.00467 AC XY: 3389AN XY: 725246
GnomAD4 genome AF: 0.00277 AC: 422AN: 152316Hom.: 4 Cov.: 32 AF XY: 0.00228 AC XY: 170AN XY: 74496
ClinVar
Submissions by phenotype
MARCHF10-related disorder Benign:1
This variant is classified as likely 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