chr12-25519909-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001145728.2(LMNTD1):āc.965A>Gā(p.Lys322Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,612,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001145728.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LMNTD1 | NM_001145728.2 | c.965A>G | p.Lys322Arg | missense_variant | 7/10 | ENST00000458174.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LMNTD1 | ENST00000458174.7 | c.965A>G | p.Lys322Arg | missense_variant | 7/10 | 2 | NM_001145728.2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151760Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251334Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135848
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1460848Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 726796
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151760Hom.: 0 Cov.: 28 AF XY: 0.0000135 AC XY: 1AN XY: 74108
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at