2-111123785-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_138621.5(BCL2L11):āc.40C>Gā(p.Arg14Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000462 in 1,448,766 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_138621.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BCL2L11 | NM_138621.5 | c.40C>G | p.Arg14Gly | missense_variant | 2/4 | ENST00000393256.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCL2L11 | ENST00000393256.8 | c.40C>G | p.Arg14Gly | missense_variant | 2/4 | 1 | NM_138621.5 | P1 | |
MIR4435-2HG | ENST00000645030.2 | n.453-86863G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 152058Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000247 AC: 32AN: 1296708Hom.: 0 Cov.: 33 AF XY: 0.0000174 AC XY: 11AN XY: 631280
GnomAD4 genome AF: 0.000230 AC: 35AN: 152058Hom.: 0 Cov.: 33 AF XY: 0.000175 AC XY: 13AN XY: 74250
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 07, 2024 | The c.40C>G (p.R14G) alteration is located in exon 2 (coding exon 1) of the BCL2L11 gene. This alteration results from a C to G substitution at nucleotide position 40, causing the arginine (R) at amino acid position 14 to be replaced by a glycine (G). 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