17-19384469-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002404.3(MFAP4):c.761G>A(p.Arg254Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000356 in 1,572,916 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 (★).
Frequency
Consequence
NM_002404.3 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 |
---|---|---|---|---|---|---|---|---|
MFAP4 | NM_002404.3 | c.761G>A | p.Arg254Gln | missense_variant | Exon 6 of 6 | ENST00000299610.5 | NP_002395.1 | |
MFAP4 | NM_001198695.2 | c.833G>A | p.Arg278Gln | missense_variant | Exon 6 of 6 | NP_001185624.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152054Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000428 AC: 8AN: 187056Hom.: 0 AF XY: 0.0000299 AC XY: 3AN XY: 100246
GnomAD4 exome AF: 0.0000345 AC: 49AN: 1420744Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 19AN XY: 703276
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152172Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74388
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.833G>A (p.R278Q) alteration is located in exon 6 (coding exon 6) of the MFAP4 gene. This alteration results from a G to A substitution at nucleotide position 833, causing the arginine (R) at amino acid position 278 to be replaced by a glutamine (Q). 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