7-30753880-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006774.5(INMT):c.304C>A(p.Pro102Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006774.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
INMT | NM_006774.5 | c.304C>A | p.Pro102Thr | missense_variant | Exon 2 of 3 | ENST00000013222.5 | NP_006765.4 | |
INMT | NM_001199219.2 | c.301C>A | p.Pro101Thr | missense_variant | Exon 2 of 3 | NP_001186148.1 | ||
INMT-MINDY4 | NR_037598.1 | n.317C>A | non_coding_transcript_exon_variant | Exon 2 of 20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INMT | ENST00000013222.5 | c.304C>A | p.Pro102Thr | missense_variant | Exon 2 of 3 | 1 | NM_006774.5 | ENSP00000013222.5 | ||
INMT-MINDY4 | ENST00000458257.5 | n.301C>A | non_coding_transcript_exon_variant | Exon 2 of 20 | 2 | ENSP00000456039.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.304C>A (p.P102T) alteration is located in exon 2 (coding exon 2) of the INMT gene. This alteration results from a C to A substitution at nucleotide position 304, causing the proline (P) at amino acid position 102 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.