1-209650009-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000228.3(LAMB3):c.138C>G(p.Thr46=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T46T) has been classified as Benign.
Frequency
Consequence
NM_000228.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LAMB3 | NM_000228.3 | c.138C>G | p.Thr46= | synonymous_variant | 3/23 | ENST00000356082.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LAMB3 | ENST00000356082.9 | c.138C>G | p.Thr46= | synonymous_variant | 3/23 | 1 | NM_000228.3 | P1 | |
LAMB3 | ENST00000367030.7 | c.138C>G | p.Thr46= | synonymous_variant | 3/23 | 1 | P1 | ||
LAMB3 | ENST00000391911.5 | c.138C>G | p.Thr46= | synonymous_variant | 2/22 | 1 | P1 | ||
LAMB3 | ENST00000415782.1 | c.138C>G | p.Thr46= | synonymous_variant | 3/6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 38
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at