chr18-23928148-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_198129.4(LAMA3):c.8203C>G(p.Arg2735Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. 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. R2735Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_198129.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LAMA3 | NM_198129.4 | c.8203C>G | p.Arg2735Gly | missense_variant | 63/75 | ENST00000313654.14 | |
LAMA3 | NM_000227.6 | c.3376C>G | p.Arg1126Gly | missense_variant | 26/38 | ENST00000269217.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LAMA3 | ENST00000313654.14 | c.8203C>G | p.Arg2735Gly | missense_variant | 63/75 | 1 | NM_198129.4 | P1 | |
LAMA3 | ENST00000269217.11 | c.3376C>G | p.Arg1126Gly | missense_variant | 26/38 | 1 | NM_000227.6 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at