12-50177296-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_016357.5(LIMA1):c.2048G>A(p.Gly683Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000266 in 1,614,162 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016357.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000217 AC: 33AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000362 AC: 91AN: 251404Hom.: 0 AF XY: 0.000456 AC XY: 62AN XY: 135870
GnomAD4 exome AF: 0.000271 AC: 396AN: 1461844Hom.: 1 Cov.: 32 AF XY: 0.000322 AC XY: 234AN XY: 727214
GnomAD4 genome AF: 0.000217 AC: 33AN: 152318Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2051G>A (p.G684D) alteration is located in exon 11 (coding exon 10) of the LIMA1 gene. This alteration results from a G to A substitution at nucleotide position 2051, causing the glycine (G) at amino acid position 684 to be replaced by an aspartic acid (D). 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