rs151199929
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000426.4(LAMA2):c.5121C>A(p.Asp1707Glu) variant causes a missense 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. 13/21 in silico tools predict 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. D1707D) has been classified as Likely benign.
Frequency
Consequence
NM_000426.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LAMA2 | NM_000426.4 | c.5121C>A | p.Asp1707Glu | missense_variant | 36/65 | ENST00000421865.3 | |
LAMA2 | NM_001079823.2 | c.5121C>A | p.Asp1707Glu | missense_variant | 36/64 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LAMA2 | ENST00000421865.3 | c.5121C>A | p.Asp1707Glu | missense_variant | 36/65 | 5 | NM_000426.4 | ||
LAMA2 | ENST00000618192.5 | c.5385C>A | p.Asp1795Glu | missense_variant | 37/66 | 5 | P1 | ||
LAMA2 | ENST00000617695.5 | c.5121C>A | p.Asp1707Glu | missense_variant | 36/64 | 5 | |||
LAMA2 | ENST00000687590.1 | n.1541C>A | non_coding_transcript_exon_variant | 4/5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at