rs141497885
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006059.4(LAMC3):c.4160C>A(p.Ala1387Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,220 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A1387V) has been classified as Likely benign.
Frequency
Consequence
NM_006059.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LAMC3 | NM_006059.4 | c.4160C>A | p.Ala1387Glu | missense_variant | 25/28 | ENST00000361069.9 | |
LAMC3 | XM_011518121.2 | c.4178C>A | p.Ala1393Glu | missense_variant | 25/28 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LAMC3 | ENST00000361069.9 | c.4160C>A | p.Ala1387Glu | missense_variant | 25/28 | 2 | NM_006059.4 | P1 | |
LAMC3 | ENST00000355452.5 | c.206C>A | p.Ala69Glu | missense_variant | 3/6 | 1 | |||
LAMC3 | ENST00000678758.1 | c.320C>A | p.Ala107Glu | missense_variant | 3/6 | ||||
LAMC3 | ENST00000678544.1 | n.1733C>A | non_coding_transcript_exon_variant | 3/6 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at