NM_024769.5:c.1082G>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024769.5(CLMP):c.1082G>C(p.Ser361Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024769.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
CLMP | ENST00000448775.4 | c.1082G>C | p.Ser361Thr | missense_variant | Exon 7 of 7 | 1 | NM_024769.5 | ENSP00000405577.2 | ||
CLMP | ENST00000530371.5 | n.556G>C | non_coding_transcript_exon_variant | Exon 4 of 4 | 4 | |||||
ENSG00000288061 | ENST00000660892.2 | n.226+10001C>G | intron_variant | Intron 2 of 2 | ||||||
CLMP | ENST00000527977.5 | n.*192G>C | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1082G>C (p.S361T) alteration is located in exon 7 (coding exon 7) of the CLMP gene. This alteration results from a G to C substitution at nucleotide position 1082, causing the serine (S) at amino acid position 361 to be replaced by a threonine (T). 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.