rs2870983
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM5BP4_Strong
The NM_016335.6(PRODH):c.1414G>T(p.Ala472Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/17 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. A472T) has been classified as Benign.
Frequency
Consequence
NM_016335.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRODH | NM_016335.6 | c.1414G>T | p.Ala472Ser | missense_variant | 11/14 | ENST00000357068.11 | |
PRODH | NM_001195226.2 | c.1090G>T | p.Ala364Ser | missense_variant | 11/14 | ||
PRODH | NM_001368250.2 | c.1090G>T | p.Ala364Ser | missense_variant | 11/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRODH | ENST00000357068.11 | c.1414G>T | p.Ala472Ser | missense_variant | 11/14 | 1 | NM_016335.6 | P3 |
Frequencies
GnomAD3 genomes ? Cov.: 5
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000712 AC: 1AN: 140520Hom.: 0 Cov.: 0 AF XY: 0.0000135 AC XY: 1AN XY: 74102
GnomAD4 genome ? Cov.: 5
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.