10-86681723-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_007078.3(LDB3):c.609G>T(p.Ser203Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,310 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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. S203S) has been classified as Benign.
Frequency
Consequence
NM_007078.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LDB3 | ENST00000361373.9 | c.609G>T | p.Ser203Ser | synonymous_variant | Exon 5 of 14 | 1 | NM_007078.3 | ENSP00000355296.3 | ||
ENSG00000289258 | ENST00000443292.2 | c.2118G>T | p.Ser706Ser | synonymous_variant | Exon 15 of 18 | 1 | ENSP00000393132.2 | |||
LDB3 | ENST00000263066.11 | c.321+1566G>T | intron_variant | Intron 4 of 8 | 1 | NM_001368067.1 | ENSP00000263066.7 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459310Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725636
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.