NM_017526.5:c.230T>C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_017526.5(LEPROT):āc.230T>Cā(p.Ile77Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000508 in 1,573,636 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_017526.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LEPROT | ENST00000371065.9 | c.230T>C | p.Ile77Thr | missense_variant | Exon 3 of 4 | 1 | NM_017526.5 | ENSP00000360104.4 | ||
LEPR | ENST00000349533.11 | c.-21+4621T>C | intron_variant | Intron 2 of 19 | 1 | NM_002303.6 | ENSP00000330393.7 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152172Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000281 AC: 4AN: 1421464Hom.: 0 Cov.: 30 AF XY: 0.00000428 AC XY: 3AN XY: 701594
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.257T>C (p.I86T) alteration is located in exon 4 (coding exon 3) of the LEPROT gene. This alteration results from a T to C substitution at nucleotide position 257, causing the isoleucine (I) at amino acid position 86 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at