18-23689803-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_198129.4(LAMA3):c.120G>T(p.Gly40Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000202 in 1,537,132 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_198129.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LAMA3 | ENST00000313654.14 | c.120G>T | p.Gly40Gly | synonymous_variant | Exon 1 of 75 | 1 | NM_198129.4 | ENSP00000324532.8 | ||
LAMA3 | ENST00000399516.7 | c.120G>T | p.Gly40Gly | synonymous_variant | Exon 1 of 74 | 1 | ENSP00000382432.2 | |||
LAMA3 | ENST00000585600.5 | n.120G>T | non_coding_transcript_exon_variant | Exon 1 of 13 | 1 | ENSP00000468316.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000232 AC: 3AN: 129356Hom.: 0 AF XY: 0.0000141 AC XY: 1AN XY: 71050
GnomAD4 exome AF: 0.0000209 AC: 29AN: 1384932Hom.: 0 Cov.: 31 AF XY: 0.0000205 AC XY: 14AN XY: 683050
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at