chr19-40608301-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001042545.2(LTBP4):c.1238G>T(p.Gly413Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,476 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 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. G413D) has been classified as Likely 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LTBP4 | NM_001042545.2 | c.1238G>T | p.Gly413Val | missense_variant | 8/30 | ENST00000396819.8 | |
LTBP4 | NM_001042544.1 | c.1439G>T | p.Gly480Val | missense_variant | 11/33 | ||
LTBP4 | NM_003573.2 | c.1328G>T | p.Gly443Val | missense_variant | 11/33 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LTBP4 | ENST00000396819.8 | c.1238G>T | p.Gly413Val | missense_variant | 8/30 | 1 | NM_001042545.2 | P3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248238Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134886
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461476Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727034
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at