rs55824996
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000228.3(LAMB3):c.332A>T(p.Asp111Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000657 in 152,098 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D111G) has been classified as Likely benign.
Frequency
Consequence
NM_000228.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LAMB3 | NM_000228.3 | c.332A>T | p.Asp111Val | missense_variant | Exon 5 of 23 | ENST00000356082.9 | NP_000219.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LAMB3 | ENST00000356082.9 | c.332A>T | p.Asp111Val | missense_variant | Exon 5 of 23 | 1 | NM_000228.3 | ENSP00000348384.3 | ||
LAMB3 | ENST00000367030.7 | c.332A>T | p.Asp111Val | missense_variant | Exon 5 of 23 | 1 | ENSP00000355997.3 | |||
LAMB3 | ENST00000391911.5 | c.332A>T | p.Asp111Val | missense_variant | Exon 4 of 22 | 1 | ENSP00000375778.1 | |||
LAMB3 | ENST00000415782.1 | c.332A>T | p.Asp111Val | missense_variant | Exon 5 of 6 | 2 | ENSP00000388960.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at