22-30415794-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012429.5(SEC14L2):c.700C>T(p.Pro234Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012429.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SEC14L2 | NM_012429.5 | c.700C>T | p.Pro234Ser | missense_variant | Exon 9 of 12 | ENST00000615189.5 | NP_036561.1 | |
SEC14L2 | NM_033382.3 | c.700C>T | p.Pro234Ser | missense_variant | Exon 9 of 11 | NP_203740.1 | ||
SEC14L2 | NM_001291932.2 | c.538C>T | p.Pro180Ser | missense_variant | Exon 8 of 11 | NP_001278861.1 | ||
SEC14L2 | NM_001204204.3 | c.451C>T | p.Pro151Ser | missense_variant | Exon 7 of 10 | NP_001191133.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SEC14L2 | ENST00000615189.5 | c.700C>T | p.Pro234Ser | missense_variant | Exon 9 of 12 | 1 | NM_012429.5 | ENSP00000478755.1 | ||
ENSG00000249590 | ENST00000439838.5 | c.202C>T | p.Pro68Ser | missense_variant | Exon 4 of 9 | 2 | ENSP00000415178.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.700C>T (p.P234S) alteration is located in exon 9 (coding exon 9) of the SEC14L2 gene. This alteration results from a C to T substitution at nucleotide position 700, causing the proline (P) at amino acid position 234 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