rs561314990
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005360.5(MAF):āc.715G>Cā(p.Ala239Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000686 in 145,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A239T) has been classified as Likely benign.
Frequency
Consequence
NM_005360.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAF | NM_005360.5 | c.715G>C | p.Ala239Pro | missense_variant | 1/2 | ENST00000326043.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAF | ENST00000326043.5 | c.715G>C | p.Ala239Pro | missense_variant | 1/2 | 1 | NM_005360.5 | A2 | |
MAF | ENST00000569649.1 | c.715G>C | p.Ala239Pro | missense_variant | 1/2 | 5 | P4 | ||
MAF | ENST00000393350.1 | c.715G>C | p.Ala239Pro | missense_variant | 1/1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000686 AC: 1AN: 145854Hom.: 0 Cov.: 29
GnomAD4 exome Cov.: 25
GnomAD4 genome AF: 0.00000686 AC: 1AN: 145854Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 70840
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at