rs61734483
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_012288.4(TRAM2):c.635G>T(p.Arg212Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R212H) has been classified as Uncertain significance.
Frequency
Consequence
NM_012288.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRAM2 | NM_012288.4 | c.635G>T | p.Arg212Leu | missense_variant | Exon 8 of 11 | ENST00000182527.4 | NP_036420.1 | |
TRAM2 | XM_011515005.3 | c.524G>T | p.Arg175Leu | missense_variant | Exon 7 of 10 | XP_011513307.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRAM2 | ENST00000182527.4 | c.635G>T | p.Arg212Leu | missense_variant | Exon 8 of 11 | 1 | NM_012288.4 | ENSP00000182527.3 | ||
EFHC1 | ENST00000637353.1 | c.1851+15778C>A | intron_variant | Intron 10 of 10 | 5 | ENSP00000490441.1 | ||||
EFHC1 | ENST00000636343.1 | c.1516-9767C>A | intron_variant | Intron 8 of 8 | 5 | ENSP00000490193.1 | ||||
EFHC1 | ENST00000637602.1 | n.*1552+15778C>A | intron_variant | Intron 10 of 10 | 2 | ENSP00000490074.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.