1-40236038-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_012421.4(RLF):āc.1336C>Gā(p.Pro446Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,336 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_012421.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RLF | NM_012421.4 | c.1336C>G | p.Pro446Ala | missense_variant | 8/8 | ENST00000372771.5 | |
RLF | XM_047427055.1 | c.688C>G | p.Pro230Ala | missense_variant | 6/6 | ||
RLF | XM_047427057.1 | c.169C>G | p.Pro57Ala | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RLF | ENST00000372771.5 | c.1336C>G | p.Pro446Ala | missense_variant | 8/8 | 1 | NM_012421.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461336Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726944
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2023 | The c.1336C>G (p.P446A) alteration is located in exon 8 (coding exon 8) of the RLF gene. This alteration results from a C to G substitution at nucleotide position 1336, causing the proline (P) at amino acid position 446 to be replaced by an alanine (A). 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
Publications
No publications associated with this variant yet.