chr2-118974392-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006770.4(MARCO):c.520C>A(p.Pro174Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,230 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006770.4 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 |
---|---|---|---|---|---|---|---|---|
MARCO | NM_006770.4 | c.520C>A | p.Pro174Thr | missense_variant | Exon 5 of 17 | ENST00000327097.5 | NP_006761.1 | |
MARCO | XM_011512082.3 | c.520C>A | p.Pro174Thr | missense_variant | Exon 5 of 17 | XP_011510384.1 | ||
MARCO | XM_011512083.4 | c.157C>A | p.Pro53Thr | missense_variant | Exon 2 of 14 | XP_011510385.1 | ||
MARCO | XM_017005171.3 | c.520C>A | p.Pro174Thr | missense_variant | Exon 5 of 9 | XP_016860660.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000813 AC: 2AN: 245928Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133180
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460230Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726220
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at