X-103609583-C-T
Variant names:
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_032926.3(TCEAL3):c.519C>T(p.Phe173Phe) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 23)
Exomes 𝑓: 0.0 ( 0 hom. 0 hem. )
Failed GnomAD Quality Control
Consequence
TCEAL3
NM_032926.3 synonymous
NM_032926.3 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.47
Genes affected
TCEAL3 (HGNC:28247): (transcription elongation factor A like 3) This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -3 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP7
Synonymous conserved (PhyloP=-1.47 with no splicing effect.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TCEAL3 | ENST00000372627.10 | c.519C>T | p.Phe173Phe | synonymous_variant | Exon 3 of 3 | 1 | NM_032926.3 | ENSP00000361710.5 | ||
TCEAL3 | ENST00000243286.7 | c.519C>T | p.Phe173Phe | synonymous_variant | Exon 3 of 3 | 1 | ENSP00000243286.3 | |||
TCEAL3 | ENST00000372628.5 | c.519C>T | p.Phe173Phe | synonymous_variant | Exon 3 of 3 | 5 | ENSP00000361711.1 | |||
TCEAL3 | ENST00000477014.1 | n.158+910C>T | intron_variant | Intron 2 of 6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 genomes
Cov.:
23
GnomAD3 exomes AF: 0.00000545 AC: 1AN: 183513Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67955
GnomAD3 exomes
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GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1098194Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363608
GnomAD4 exome
Data not reliable, filtered out with message: AC0;AS_VQSR
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31
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GnomAD4 genome Cov.: 23
GnomAD4 genome
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23
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at