14-24505634-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001836.5(CMA1):c.626G>C(p.Cys209Ser) variant causes a missense change involving the alteration of a non-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_001836.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CMA1 | ENST00000250378.7 | c.626G>C | p.Cys209Ser | missense_variant | Exon 5 of 5 | 1 | NM_001836.5 | ENSP00000250378.3 | ||
CMA1 | ENST00000206446.4 | c.293G>C | p.Cys98Ser | missense_variant | Exon 4 of 4 | 1 | ENSP00000206446.4 | |||
ENSG00000258744 | ENST00000555109.1 | n.144-2500C>G | intron_variant | Intron 1 of 1 | 5 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.626G>C (p.C209S) alteration is located in exon 5 (coding exon 5) of the CMA1 gene. This alteration results from a G to C substitution at nucleotide position 626, causing the cysteine (C) at amino acid position 209 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
Publications
No publications associated with this variant yet.