rs61737308
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_032808.7(LINGO1):c.1110G>T(p.Pro370Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,609,946 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_032808.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LINGO1 | NM_032808.7 | c.1110G>T | p.Pro370Pro | synonymous_variant | 2/2 | ENST00000355300.7 | NP_116197.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINGO1 | ENST00000355300.7 | c.1110G>T | p.Pro370Pro | synonymous_variant | 2/2 | 1 | NM_032808.7 | ENSP00000347451.6 | ||
LINGO1 | ENST00000561030.5 | c.1092G>T | p.Pro364Pro | synonymous_variant | 4/4 | 1 | ENSP00000453853.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152232Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000172 AC: 25AN: 1457714Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 724750
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74376
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at