1-206507742-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000579436.7(RASSF5):c.140C>T(p.Pro47Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000816 in 1,471,462 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000579436.7 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RASSF5 | NM_182663.4 | c.140C>T | p.Pro47Leu | missense_variant | 1/6 | ENST00000579436.7 | NP_872604.1 | |
RASSF5 | NM_182664.4 | c.140C>T | p.Pro47Leu | missense_variant | 1/5 | NP_872605.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASSF5 | ENST00000579436.7 | c.140C>T | p.Pro47Leu | missense_variant | 1/6 | 1 | NM_182663.4 | ENSP00000462099.1 | ||
RASSF5 | ENST00000581503.6 | c.140C>T | p.Pro47Leu | missense_variant | 1/4 | 1 | ENSP00000464039.2 | |||
RASSF5 | ENST00000580449.5 | c.140C>T | p.Pro47Leu | missense_variant | 1/5 | 1 | ENSP00000462544.1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151824Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000140 AC: 1AN: 71416Hom.: 0 AF XY: 0.0000240 AC XY: 1AN XY: 41620
GnomAD4 exome AF: 0.00000834 AC: 11AN: 1319638Hom.: 0 Cov.: 35 AF XY: 0.00000769 AC XY: 5AN XY: 650444
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151824Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74136
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2021 | The c.140C>T (p.P47L) alteration is located in exon 1 (coding exon 1) of the RASSF5 gene. This alteration results from a C to T substitution at nucleotide position 140, causing the proline (P) at amino acid position 47 to be replaced by a leucine (L). 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