12-108206364-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014653.4(WSCD2):c.458A>T(p.Lys153Met) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K153R) has been classified as Uncertain significance.
Frequency
Consequence
NM_014653.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WSCD2 | NM_014653.4 | c.458A>T | p.Lys153Met | missense_variant | 3/9 | ENST00000547525.6 | |
LOC124903077 | XR_007063583.1 | n.183-15345T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WSCD2 | ENST00000547525.6 | c.458A>T | p.Lys153Met | missense_variant | 3/9 | 1 | NM_014653.4 | P1 | |
WSCD2 | ENST00000332082.8 | c.458A>T | p.Lys153Met | missense_variant | 4/10 | 1 | P1 | ||
WSCD2 | ENST00000549903.1 | c.458A>T | p.Lys153Met | missense_variant | 2/9 | 5 | |||
WSCD2 | ENST00000551638.5 | c.-2A>T | 5_prime_UTR_variant | 2/5 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 22, 2022 | The c.458A>T (p.K153M) alteration is located in exon 3 (coding exon 2) of the WSCD2 gene. This alteration results from a A to T substitution at nucleotide position 458, causing the lysine (K) at amino acid position 153 to be replaced by a methionine (M). 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
Publications
No publications associated with this variant yet.