chr6-37446376-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_015050.3(CMTR1):c.371G>T(p.Gly124Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015050.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CMTR1 | NM_015050.3 | c.371G>T | p.Gly124Val | missense_variant | 4/24 | ENST00000373451.9 | NP_055865.1 | |
CMTR1 | XM_047418462.1 | c.371G>T | p.Gly124Val | missense_variant | 5/25 | XP_047274418.1 | ||
CMTR1 | XM_047418463.1 | c.371G>T | p.Gly124Val | missense_variant | 6/26 | XP_047274419.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CMTR1 | ENST00000373451.9 | c.371G>T | p.Gly124Val | missense_variant | 4/24 | 1 | NM_015050.3 | ENSP00000362550 | P1 | |
CMTR1 | ENST00000455891.5 | c.371G>T | p.Gly124Val | missense_variant | 4/10 | 2 | ENSP00000414233 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461872Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727236
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 03, 2021 | The c.371G>T (p.G124V) alteration is located in exon 4 (coding exon 3) of the CMTR1 gene. This alteration results from a G to T substitution at nucleotide position 371, causing the glycine (G) at amino acid position 124 to be replaced by a valine (V). 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.