rs12933084
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021197.4(WFDC1):āc.650A>Cā(p.Lys217Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,876 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K217R) has been classified as Likely benign.
Frequency
Consequence
NM_021197.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WFDC1 | NM_021197.4 | c.650A>C | p.Lys217Thr | missense_variant | 6/7 | ENST00000219454.10 | |
WFDC1 | NM_001282466.2 | c.650A>C | p.Lys217Thr | missense_variant | 6/7 | ||
WFDC1 | NM_001282467.2 | c.647A>C | p.Lys216Thr | missense_variant | 6/7 | ||
WFDC1 | XM_047434411.1 | c.566A>C | p.Lys189Thr | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WFDC1 | ENST00000219454.10 | c.650A>C | p.Lys217Thr | missense_variant | 6/7 | 1 | NM_021197.4 | P1 | |
WFDC1 | ENST00000568638.1 | c.650A>C | p.Lys217Thr | missense_variant | 6/7 | 2 | P1 | ||
WFDC1 | ENST00000567056.1 | n.3603A>C | non_coding_transcript_exon_variant | 3/4 | 2 | ||||
WFDC1 | ENST00000622779.1 | n.1264A>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251410Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135870
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461876Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 727236
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at