chr18-31595137-G-A
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP3_StrongPP5
The NM_000371.4(TTR):c.218G>A(p.Gly73Glu) 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. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G73A) has been classified as Pathogenic.
Frequency
Consequence
NM_000371.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTR | NM_000371.4 | c.218G>A | p.Gly73Glu | missense_variant | 3/4 | ENST00000237014.8 | NP_000362.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTR | ENST00000237014.8 | c.218G>A | p.Gly73Glu | missense_variant | 3/4 | 1 | NM_000371.4 | ENSP00000237014.4 | ||
TTR | ENST00000649620.1 | c.218G>A | p.Gly73Glu | missense_variant | 5/6 | ENSP00000497927.1 | ||||
TTR | ENST00000610404.5 | c.122G>A | p.Gly41Glu | missense_variant | 3/4 | 5 | ENSP00000477599.2 | |||
TTR | ENST00000541025.2 | n.244G>A | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Amyloidosis, hereditary systemic 1 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jul 10, 2001 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at