rs11702425
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001379500.1(COL18A1):c.1920T>A(p.Leu640=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L640L) has been classified as Benign.
Frequency
Consequence
NM_001379500.1 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 | UniProt |
---|---|---|---|---|---|---|---|
COL18A1 | NM_001379500.1 | c.1920T>A | p.Leu640= | synonymous_variant | 18/42 | ENST00000651438.1 | |
COL18A1 | NM_130444.3 | c.3165T>A | p.Leu1055= | synonymous_variant | 17/41 | ||
COL18A1 | NM_030582.4 | c.2460T>A | p.Leu820= | synonymous_variant | 17/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL18A1 | ENST00000651438.1 | c.1920T>A | p.Leu640= | synonymous_variant | 18/42 | NM_001379500.1 | |||
COL18A1 | ENST00000355480.10 | c.2460T>A | p.Leu820= | synonymous_variant | 17/41 | 1 | |||
COL18A1 | ENST00000359759.8 | c.3165T>A | p.Leu1055= | synonymous_variant | 17/41 | 5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 49
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at