rs318240754
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030787.4(CFHR5):c.314T>C(p.Leu105Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 13/21 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. L105R) has been classified as Uncertain significance.
Frequency
Consequence
NM_030787.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFHR5 | NM_030787.4 | c.314T>C | p.Leu105Pro | missense_variant | 3/10 | ENST00000256785.5 | |
CFHR5 | XM_011510020.3 | c.323T>C | p.Leu108Pro | missense_variant | 3/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFHR5 | ENST00000256785.5 | c.314T>C | p.Leu105Pro | missense_variant | 3/10 | 1 | NM_030787.4 | P1 | |
CFHR5 | ENST00000699466.1 | c.59T>C | p.Leu20Pro | missense_variant | 3/10 | ||||
CFHR5 | ENST00000699468.1 | c.-25+6341T>C | intron_variant | ||||||
CFHR5 | ENST00000699467.1 | n.383T>C | non_coding_transcript_exon_variant | 3/10 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at