2-159743083-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001282805.2(MARCHF7):c.176C>T(p.Ala59Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00019 in 1,613,484 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001282805.2 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 |
---|---|---|---|---|---|---|---|---|
MARCHF7 | NM_001282805.2 | c.176C>T | p.Ala59Val | missense_variant | Exon 5 of 12 | ENST00000409175.6 | NP_001269734.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000156 AC: 39AN: 250600Hom.: 0 AF XY: 0.000170 AC XY: 23AN XY: 135452
GnomAD4 exome AF: 0.000198 AC: 290AN: 1461288Hom.: 0 Cov.: 30 AF XY: 0.000197 AC XY: 143AN XY: 726920
GnomAD4 genome AF: 0.000105 AC: 16AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.176C>T (p.A59V) alteration is located in exon 3 (coding exon 2) of the MARCH7 gene. This alteration results from a C to T substitution at nucleotide position 176, causing the alanine (A) at amino acid position 59 to be replaced by a valine (V). 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