9-111362104-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001364929.1(ECPAS):c.5446A>T(p.Met1816Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001364929.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ECPAS | NM_001364929.1 | c.5446A>T | p.Met1816Leu | missense_variant | Exon 50 of 50 | ENST00000684092.1 | NP_001351858.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ECPAS | ENST00000684092.1 | c.5446A>T | p.Met1816Leu | missense_variant | Exon 50 of 50 | NM_001364929.1 | ENSP00000507419.1 | |||
ECPAS | ENST00000259335.8 | c.5980A>T | p.Met1994Leu | missense_variant | Exon 51 of 51 | 1 | ENSP00000259335.4 | |||
ECPAS | ENST00000338205.9 | c.5446A>T | p.Met1816Leu | missense_variant | Exon 49 of 49 | 5 | ENSP00000339889.5 | |||
ECPAS | ENST00000374383.1 | c.406-51A>T | intron_variant | Intron 3 of 3 | 2 | ENSP00000363504.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5980A>T (p.M1994L) alteration is located in exon 51 (coding exon 51) of the KIAA0368 gene. This alteration results from a A to T substitution at nucleotide position 5980, causing the methionine (M) at amino acid position 1994 to be replaced by a leucine (L). 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