14-55433690-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_199047.3(TBPL2):āc.632A>Gā(p.Glu211Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000204 in 1,613,954 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E211K) has been classified as Uncertain significance.
Frequency
Consequence
NM_199047.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBPL2 | NM_199047.3 | c.632A>G | p.Glu211Gly | missense_variant | 4/7 | ENST00000247219.6 | |
FBXO34 | XR_007064022.1 | n.2983-3226T>C | intron_variant, non_coding_transcript_variant | ||||
FBXO34 | XR_007064023.1 | n.2941-9137T>C | intron_variant, non_coding_transcript_variant | ||||
FBXO34 | XR_007064024.1 | n.2983-4252T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBPL2 | ENST00000247219.6 | c.632A>G | p.Glu211Gly | missense_variant | 4/7 | 1 | NM_199047.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152118Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251376Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135858
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461836Hom.: 0 Cov.: 30 AF XY: 0.0000151 AC XY: 11AN XY: 727220
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152118Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 04, 2023 | The c.728A>G (p.E243G) alteration is located in exon 4 (coding exon 4) of the TBPL2 gene. This alteration results from a A to G substitution at nucleotide position 728, causing the glutamic acid (E) at amino acid position 243 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