16-55566926-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032330.3(CAPNS2):c.170C>G(p.Thr57Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign 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. T57I) has been classified as Uncertain significance.
Frequency
Consequence
NM_032330.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CAPNS2 | NM_032330.3 | c.170C>G | p.Thr57Ser | missense_variant | 1/1 | ENST00000457326.3 | |
LPCAT2 | NM_017839.5 | c.1216-7705C>G | intron_variant | ENST00000262134.10 | |||
LPCAT2 | XM_011523169.4 | c.406-7705C>G | intron_variant | ||||
LPCAT2 | XM_047434277.1 | c.1048-7705C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAPNS2 | ENST00000457326.3 | c.170C>G | p.Thr57Ser | missense_variant | 1/1 | NM_032330.3 | P1 | ||
LPCAT2 | ENST00000262134.10 | c.1216-7705C>G | intron_variant | 1 | NM_017839.5 | P1 |
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 | Feb 28, 2023 | The c.170C>G (p.T57S) alteration is located in exon 1 (coding exon 1) of the CAPNS2 gene. This alteration results from a C to G substitution at nucleotide position 170, causing the threonine (T) at amino acid position 57 to be replaced by a serine (S). 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.