3-149656960-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_015472.6(WWTR1):āc.347A>Gā(p.Gln116Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000526 in 1,596,354 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015472.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WWTR1 | NM_015472.6 | c.347A>G | p.Gln116Arg | missense_variant | 2/7 | ENST00000360632.8 | NP_056287.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WWTR1 | ENST00000360632.8 | c.347A>G | p.Gln116Arg | missense_variant | 2/7 | 1 | NM_015472.6 | ENSP00000353847.3 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152204Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000109 AC: 25AN: 229178Hom.: 0 AF XY: 0.000119 AC XY: 15AN XY: 126074
GnomAD4 exome AF: 0.0000505 AC: 73AN: 1444150Hom.: 0 Cov.: 32 AF XY: 0.0000585 AC XY: 42AN XY: 718080
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152204Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74360
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at