9-37724246-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014907.3(FRMPD1):c.538C>T(p.Pro180Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014907.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRMPD1 | ENST00000377765.8 | c.538C>T | p.Pro180Ser | missense_variant | Exon 7 of 16 | 1 | NM_014907.3 | ENSP00000366995.3 | ||
FRMPD1 | ENST00000539465.5 | c.538C>T | p.Pro180Ser | missense_variant | Exon 7 of 16 | 1 | ENSP00000444411.1 | |||
ENSG00000255872 | ENST00000540557.1 | n.*1011+3682G>A | intron_variant | Intron 10 of 11 | 5 | ENSP00000457548.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1442080Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 718516
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.538C>T (p.P180S) alteration is located in exon 7 (coding exon 6) of the FRMPD1 gene. This alteration results from a C to T substitution at nucleotide position 538, causing the proline (P) at amino acid position 180 to be replaced by a serine (S). 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