chr3-149526046-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_015472.6(WWTR1):c.985G>A(p.Asp329Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000871 in 1,607,828 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015472.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WWTR1 | NM_015472.6 | c.985G>A | p.Asp329Asn | missense_variant | Exon 6 of 7 | ENST00000360632.8 | NP_056287.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000519 AC: 79AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000101 AC: 25AN: 247154Hom.: 0 AF XY: 0.0000598 AC XY: 8AN XY: 133700
GnomAD4 exome AF: 0.0000419 AC: 61AN: 1455542Hom.: 0 Cov.: 30 AF XY: 0.0000262 AC XY: 19AN XY: 724056
GnomAD4 genome AF: 0.000519 AC: 79AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.000470 AC XY: 35AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.985G>A (p.D329N) alteration is located in exon 6 (coding exon 5) of the WWTR1 gene. This alteration results from a G to A substitution at nucleotide position 985, causing the aspartic acid (D) at amino acid position 329 to be replaced by an asparagine (N). 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