5-131180125-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_181705.4(LYRM7):c.49A>G(p.Thr17Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000174 in 1,613,104 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. T17T) has been classified as Likely benign.
Frequency
Consequence
NM_181705.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LYRM7 | NM_181705.4 | c.49A>G | p.Thr17Ala | missense_variant | 2/5 | ENST00000379380.9 | |
LYRM7 | NM_001293735.2 | c.49A>G | p.Thr17Ala | missense_variant | 2/4 | ||
LYRM7 | NR_121658.2 | n.126A>G | non_coding_transcript_exon_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LYRM7 | ENST00000379380.9 | c.49A>G | p.Thr17Ala | missense_variant | 2/5 | 1 | NM_181705.4 | P1 | |
LYRM7 | ENST00000507584.1 | c.49A>G | p.Thr17Ala | missense_variant | 2/4 | 2 | |||
LYRM7 | ENST00000510516.5 | c.49A>G | p.Thr17Ala | missense_variant | 2/3 | 2 | |||
HINT1 | ENST00000506207.2 | n.109-8392T>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152144Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250884Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135630
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1460960Hom.: 0 Cov.: 28 AF XY: 0.0000165 AC XY: 12AN XY: 726876
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152144Hom.: 0 Cov.: 30 AF XY: 0.0000404 AC XY: 3AN XY: 74326
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 17, 2023 | This variant is present in population databases (rs757100338, gnomAD 0.003%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1967682). This variant has not been reported in the literature in individuals affected with LYRM7-related conditions. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 17 of the LYRM7 protein (p.Thr17Ala). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at