rs763626668
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198129.4(LAMA3):c.4558G>A(p.Ala1520Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000682 in 1,613,078 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. A1520S) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LAMA3 | NM_198129.4 | c.4558G>A | p.Ala1520Thr | missense_variant | 35/75 | ENST00000313654.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LAMA3 | ENST00000313654.14 | c.4558G>A | p.Ala1520Thr | missense_variant | 35/75 | 1 | NM_198129.4 | P1 | |
LAMA3 | ENST00000399516.7 | c.4558G>A | p.Ala1520Thr | missense_variant | 35/74 | 1 | |||
LAMA3 | ENST00000649721.1 | c.1450G>A | p.Ala484Thr | missense_variant | 10/48 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000808 AC: 2AN: 247534Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134286
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1460926Hom.: 0 Cov.: 34 AF XY: 0.00000826 AC XY: 6AN XY: 726612
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152152Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at