9-136952923-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_178536.4(LCN12):c.146C>T(p.Ala49Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000458 in 1,592,432 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178536.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LCN12 | NM_178536.4 | c.146C>T | p.Ala49Val | missense_variant | Exon 2 of 6 | ENST00000371633.8 | NP_848631.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151630Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000482 AC: 12AN: 248896Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135166
GnomAD4 exome AF: 0.0000479 AC: 69AN: 1440682Hom.: 0 Cov.: 40 AF XY: 0.0000460 AC XY: 33AN XY: 716878
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151750Hom.: 0 Cov.: 33 AF XY: 0.0000270 AC XY: 2AN XY: 74190
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.146C>T (p.A49V) alteration is located in exon 2 (coding exon 2) of the LCN12 gene. This alteration results from a C to T substitution at nucleotide position 146, causing the alanine (A) at amino acid position 49 to be replaced by a valine (V). 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