19-2434519-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBP6_Very_Strong
The NM_032737.4(LMNB2):c.982-4G>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000384 in 1,611,170 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_032737.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LMNB2 | ENST00000325327.4 | c.982-4G>A | splice_region_variant, intron_variant | Intron 6 of 11 | 1 | NM_032737.4 | ENSP00000327054.3 | |||
LMNB2 | ENST00000490554.5 | n.173-4G>A | splice_region_variant, intron_variant | Intron 1 of 3 | 2 | |||||
LMNB2 | ENST00000527409.1 | n.618-4G>A | splice_region_variant, intron_variant | Intron 3 of 3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000289 AC: 44AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000288 AC: 71AN: 246120Hom.: 1 AF XY: 0.000276 AC XY: 37AN XY: 134040
GnomAD4 exome AF: 0.000394 AC: 575AN: 1458854Hom.: 1 Cov.: 35 AF XY: 0.000384 AC XY: 279AN XY: 725786
GnomAD4 genome AF: 0.000289 AC: 44AN: 152316Hom.: 0 Cov.: 33 AF XY: 0.000295 AC XY: 22AN XY: 74492
ClinVar
Submissions by phenotype
Lipodystrophy, partial, acquired, susceptibility to;C4225289:Progressive myoclonic epilepsy type 9 Benign:1
- -
not provided Benign:1
LMNB2: BP4 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at