1-226266235-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001366245.2(LIN9):āc.914C>Gā(p.Pro305Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000014 in 1,433,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001366245.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LIN9 | NM_001366245.2 | c.914C>G | p.Pro305Arg | missense_variant | 9/15 | ENST00000681046.1 | NP_001353174.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LIN9 | ENST00000681046.1 | c.914C>G | p.Pro305Arg | missense_variant | 9/15 | NM_001366245.2 | ENSP00000505590 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1433676Hom.: 0 Cov.: 28 AF XY: 0.00000140 AC XY: 1AN XY: 713310
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 14, 2023 | The c.962C>G (p.P321R) alteration is located in exon 9 (coding exon 9) of the LIN9 gene. This alteration results from a C to G substitution at nucleotide position 962, causing the proline (P) at amino acid position 321 to be replaced by an arginine (R). 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
Publications
No publications associated with this variant yet.