13-33013514-A-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XM_047430819.1(LOC124903151):c.729T>A(p.His243Gln) 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. 4/4 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
XM_047430819.1 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000308044 | ENST00000830674.1 | n.531T>A | non_coding_transcript_exon_variant | Exon 2 of 2 | ||||||
ENSG00000308044 | ENST00000830675.1 | n.694T>A | non_coding_transcript_exon_variant | Exon 2 of 2 | ||||||
ENSG00000308044 | ENST00000830676.1 | n.338T>A | non_coding_transcript_exon_variant | Exon 2 of 2 | ||||||
ENSG00000308044 | ENST00000830677.1 | n.266T>A | non_coding_transcript_exon_variant | Exon 2 of 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 0
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at