rs13306523
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_017526.5(LEPROT):c.21C>A(p.Leu7=) 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. L7L) has been classified as Likely benign.
Frequency
Consequence
NM_017526.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LEPROT | NM_017526.5 | c.21C>A | p.Leu7= | synonymous_variant | 2/4 | ENST00000371065.9 | |
LEPR | NM_002303.6 | c.-92C>A | 5_prime_UTR_variant | 2/20 | ENST00000349533.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LEPROT | ENST00000371065.9 | c.21C>A | p.Leu7= | synonymous_variant | 2/4 | 1 | NM_017526.5 | P1 | |
LEPR | ENST00000349533.11 | c.-92C>A | 5_prime_UTR_variant | 2/20 | 1 | NM_002303.6 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at