12-12079637-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138723.2(BCL2L14):āc.332A>Gā(p.Lys111Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000267 in 1,461,862 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_138723.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCL2L14 | NM_138723.2 | c.332A>G | p.Lys111Arg | missense_variant | 2/6 | ENST00000308721.9 | NP_620049.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251210Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135818
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461862Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727226
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2023 | The c.332A>G (p.K111R) alteration is located in exon 2 (coding exon 1) of the BCL2L14 gene. This alteration results from a A to G substitution at nucleotide position 332, causing the lysine (K) at amino acid position 111 to be replaced by an arginine (R). 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