2-85133705-GGGCGGCGGCGGCGGC-GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_031283.3(TCF7L1):c.25_42dupGGCGGCGGCGGCGGCGGC(p.Gly9_Gly14dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000069 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000097 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
TCF7L1
NM_031283.3 conservative_inframe_insertion
NM_031283.3 conservative_inframe_insertion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0880
Genes affected
TCF7L1 (HGNC:11640): (transcription factor 7 like 1) This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TCF7L1 | NM_031283.3 | c.25_42dupGGCGGCGGCGGCGGCGGC | p.Gly9_Gly14dup | conservative_inframe_insertion | Exon 1 of 12 | ENST00000282111.4 | NP_112573.1 | |
TCF7L1 | XM_006712109.3 | c.25_42dupGGCGGCGGCGGCGGCGGC | p.Gly9_Gly14dup | conservative_inframe_insertion | Exon 1 of 12 | XP_006712172.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000686 AC: 1AN: 145814Hom.: 0 Cov.: 0
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000967 AC: 9AN: 930944Hom.: 0 Cov.: 0 AF XY: 0.0000160 AC XY: 7AN XY: 437378
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GnomAD4 genome AF: 0.00000686 AC: 1AN: 145814Hom.: 0 Cov.: 0 AF XY: 0.0000141 AC XY: 1AN XY: 70850
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at