rs1160047
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000472238.1(ENSG00000242317):n.249-454C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.402 in 151,936 control chromosomes in the GnomAD database, including 12,779 homozygotes. 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
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 |
---|---|---|---|---|---|---|---|
WNT5A | XM_011534086.3 | c.-1024C>T | 5_prime_UTR_variant | 3/10 | |||
WNT5A | XM_017007128.2 | c.-1029C>T | 5_prime_UTR_variant | 3/10 | |||
WNT5A | XM_047448856.1 | c.-3987C>T | 5_prime_UTR_variant | 3/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000472238.1 | n.249-454C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.402 AC: 60994AN: 151816Hom.: 12757 Cov.: 32
GnomAD4 genome ? AF: 0.402 AC: 61055AN: 151936Hom.: 12779 Cov.: 32 AF XY: 0.400 AC XY: 29695AN XY: 74270
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at