rs570247132
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS1
The NM_198271.5(LMOD3):c.200A>G(p.Asn67Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000156 in 1,613,456 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict 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. N67N) has been classified as Likely benign.
Frequency
Consequence
NM_198271.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LMOD3 | NM_198271.5 | c.200A>G | p.Asn67Ser | missense_variant | 1/3 | ENST00000420581.7 | |
LMOD3 | NM_001304418.3 | c.200A>G | p.Asn67Ser | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LMOD3 | ENST00000420581.7 | c.200A>G | p.Asn67Ser | missense_variant | 1/3 | 1 | NM_198271.5 | P1 | |
LMOD3 | ENST00000475434.1 | c.200A>G | p.Asn67Ser | missense_variant | 2/4 | 5 | P1 | ||
LMOD3 | ENST00000489031.5 | c.200A>G | p.Asn67Ser | missense_variant | 2/4 | 2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000299 AC: 74AN: 247846Hom.: 0 AF XY: 0.000424 AC XY: 57AN XY: 134480
GnomAD4 exome AF: 0.000162 AC: 237AN: 1461164Hom.: 5 Cov.: 32 AF XY: 0.000224 AC XY: 163AN XY: 726826
GnomAD4 genome ? AF: 0.0000919 AC: 14AN: 152292Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74474
ClinVar
Submissions by phenotype
Nemaline myopathy 10 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 20, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at