1-45629622-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021639.5(GPBP1L1):c.1226C>T(p.Pro409Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000131 in 1,613,522 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021639.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152092Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000211 AC: 53AN: 251480Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135912
GnomAD4 exome AF: 0.000133 AC: 195AN: 1461314Hom.: 0 Cov.: 30 AF XY: 0.000113 AC XY: 82AN XY: 727002
GnomAD4 genome AF: 0.000105 AC: 16AN: 152208Hom.: 0 Cov.: 31 AF XY: 0.0000806 AC XY: 6AN XY: 74428
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1226C>T (p.P409L) alteration is located in exon 12 (coding exon 9) of the GPBP1L1 gene. This alteration results from a C to T substitution at nucleotide position 1226, causing the proline (P) at amino acid position 409 to be replaced by a leucine (L). 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