3-69118939-T-C
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 2P and 11B. PM2BP4_StrongBP6_ModerateBP7BS1
The NM_198271.5(LMOD3):c.1416A>G(p.Pro472=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000682 in 1,612,636 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P472P) has been classified as Likely benign.
Frequency
Consequence
NM_198271.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LMOD3 | NM_198271.5 | c.1416A>G | p.Pro472= | synonymous_variant | 2/3 | ENST00000420581.7 | |
LMOD3 | NM_001304418.3 | c.1416A>G | p.Pro472= | synonymous_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LMOD3 | ENST00000420581.7 | c.1416A>G | p.Pro472= | synonymous_variant | 2/3 | 1 | NM_198271.5 | P1 | |
LMOD3 | ENST00000475434.1 | c.1416A>G | p.Pro472= | synonymous_variant | 3/4 | 5 | P1 | ||
LMOD3 | ENST00000489031.5 | c.1416A>G | p.Pro472= | synonymous_variant | 3/4 | 2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000729 AC: 11AN: 150832Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000100 AC: 25AN: 248794Hom.: 0 AF XY: 0.000119 AC XY: 16AN XY: 134958
GnomAD4 exome AF: 0.0000677 AC: 99AN: 1461686Hom.: 1 Cov.: 33 AF XY: 0.0000674 AC XY: 49AN XY: 727130
GnomAD4 genome ? AF: 0.0000729 AC: 11AN: 150950Hom.: 0 Cov.: 30 AF XY: 0.0000679 AC XY: 5AN XY: 73650
ClinVar
Submissions by phenotype
Nemaline myopathy 10 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 21, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at