rs30489
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000518915.5(TCF7):c.766G>A(p.Gly256Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0979 in 1,613,706 control chromosomes in the GnomAD database, including 11,037 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/14 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000518915.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TCF7 | NM_003202.5 | c.1076-448G>A | intron_variant | ENST00000342854.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TCF7 | ENST00000342854.10 | c.1076-448G>A | intron_variant | 1 | NM_003202.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0869 AC: 13210AN: 152088Hom.: 1051 Cov.: 32
GnomAD3 exomes AF: 0.133 AC: 33112AN: 249006Hom.: 3652 AF XY: 0.126 AC XY: 16983AN XY: 135096
GnomAD4 exome AF: 0.0990 AC: 144724AN: 1461500Hom.: 9982 Cov.: 32 AF XY: 0.0984 AC XY: 71539AN XY: 727030
GnomAD4 genome ? AF: 0.0869 AC: 13220AN: 152206Hom.: 1055 Cov.: 32 AF XY: 0.0911 AC XY: 6782AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at