14-24505599-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001836.5(CMA1):c.661C>T(p.Arg221Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000308 in 1,461,740 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001836.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CMA1 | ENST00000250378.7 | c.661C>T | p.Arg221Trp | missense_variant | Exon 5 of 5 | 1 | NM_001836.5 | ENSP00000250378.3 | ||
CMA1 | ENST00000206446.4 | c.328C>T | p.Arg110Trp | missense_variant | Exon 4 of 4 | 1 | ENSP00000206446.4 | |||
ENSG00000258744 | ENST00000555109.1 | n.144-2535G>A | intron_variant | Intron 1 of 1 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.000116 AC: 29AN: 250900Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135566
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461740Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727158
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.661C>T (p.R221W) alteration is located in exon 5 (coding exon 5) of the CMA1 gene. This alteration results from a C to T substitution at nucleotide position 661, causing the arginine (R) at amino acid position 221 to be replaced by a tryptophan (W). 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