rs1027199
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000426.4(LAMA2):āc.2799A>Cā(p.Gln933His) 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. 16/21 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. Q933Q) has been classified as Benign.
Frequency
Consequence
NM_000426.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LAMA2 | NM_000426.4 | c.2799A>C | p.Gln933His | missense_variant | 20/65 | ENST00000421865.3 | NP_000417.3 | |
LAMA2 | NM_001079823.2 | c.2799A>C | p.Gln933His | missense_variant | 20/64 | NP_001073291.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LAMA2 | ENST00000421865.3 | c.2799A>C | p.Gln933His | missense_variant | 20/65 | 5 | NM_000426.4 | ENSP00000400365 | ||
LAMA2 | ENST00000618192.5 | c.2799A>C | p.Gln933His | missense_variant | 20/66 | 5 | ENSP00000480802 | P1 | ||
LAMA2 | ENST00000617695.5 | c.2799A>C | p.Gln933His | missense_variant | 20/64 | 5 | ENSP00000481744 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461724Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727162
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at