rs2077407
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP3BS1
The NM_001042545.2(LTBP4):c.2565C>A(p.Asp855Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,613,416 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D855D) has been classified as Benign.
Frequency
Consequence
NM_001042545.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LTBP4 | NM_001042545.2 | c.2565C>A | p.Asp855Glu | missense_variant | 18/30 | ENST00000396819.8 | |
LTBP4 | NM_001042544.1 | c.2766C>A | p.Asp922Glu | missense_variant | 21/33 | ||
LTBP4 | NM_003573.2 | c.2655C>A | p.Asp885Glu | missense_variant | 21/33 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LTBP4 | ENST00000396819.8 | c.2565C>A | p.Asp855Glu | missense_variant | 18/30 | 1 | NM_001042545.2 | P3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151948Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248080Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134830
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461468Hom.: 0 Cov.: 34 AF XY: 0.0000358 AC XY: 26AN XY: 727014
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151948Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 4AN XY: 74200
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at