14-23308858-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004050.5(BCL2L2):c.475G>T(p.Ala159Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004050.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCL2L2 | ENST00000250405.10 | c.475G>T | p.Ala159Ser | missense_variant | Exon 4 of 4 | 1 | NM_004050.5 | ENSP00000250405.6 | ||
BCL2L2-PABPN1 | ENST00000678502.1 | c.432+659G>T | intron_variant | Intron 3 of 9 | ENSP00000503309.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.475G>T (p.A159S) alteration is located in exon 4 (coding exon 2) of the BCL2L2 gene. This alteration results from a G to T substitution at nucleotide position 475, causing the alanine (A) at amino acid position 159 to be replaced by a serine (S). 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.