4-155355099-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001039580.2(MAP9):c.1352G>A(p.Ser451Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000326 in 1,410,608 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_001039580.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152022Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000162 AC: 3AN: 184780Hom.: 0 AF XY: 0.0000296 AC XY: 3AN XY: 101464
GnomAD4 exome AF: 0.0000342 AC: 43AN: 1258586Hom.: 0 Cov.: 19 AF XY: 0.0000413 AC XY: 26AN XY: 630266
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152022Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74236
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1352G>A (p.S451N) alteration is located in exon 10 (coding exon 9) of the MAP9 gene. This alteration results from a G to A substitution at nucleotide position 1352, causing the serine (S) at amino acid position 451 to be replaced by an asparagine (N). 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