19-40612150-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001042545.2(LTBP4):c.2257A>T(p.Thr753Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/20 in silico tools predict a benign 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. T753A) has been classified as Benign.
Frequency
Consequence
NM_001042545.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LTBP4 | NM_001042545.2 | c.2257A>T | p.Thr753Ser | missense_variant | Exon 15 of 30 | ENST00000396819.8 | NP_001036010.1 | |
LTBP4 | NM_001042544.1 | c.2458A>T | p.Thr820Ser | missense_variant | Exon 18 of 33 | NP_001036009.1 | ||
LTBP4 | NM_003573.2 | c.2347A>T | p.Thr783Ser | missense_variant | Exon 18 of 33 | NP_003564.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 52
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at