2-232480184-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004826.4(ECEL1):āc.2297T>Cā(p.Met766Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,613,716 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004826.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ECEL1 | NM_004826.4 | c.2297T>C | p.Met766Thr | missense_variant | Exon 18 of 18 | ENST00000304546.6 | NP_004817.2 | |
ECEL1 | NM_001290787.2 | c.2291T>C | p.Met764Thr | missense_variant | Exon 18 of 18 | NP_001277716.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ECEL1 | ENST00000304546.6 | c.2297T>C | p.Met766Thr | missense_variant | Exon 18 of 18 | 1 | NM_004826.4 | ENSP00000302051.1 | ||
ECEL1 | ENST00000409941.1 | c.2291T>C | p.Met764Thr | missense_variant | Exon 17 of 17 | 1 | ENSP00000386333.1 | |||
ECEL1 | ENST00000411860.5 | c.476T>C | p.Met159Thr | missense_variant | Exon 6 of 6 | 3 | ENSP00000412683.1 | |||
ECEL1 | ENST00000482346.1 | n.2608T>C | non_coding_transcript_exon_variant | Exon 17 of 17 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151922Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461794Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727218
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151922Hom.: 0 Cov.: 33 AF XY: 0.0000674 AC XY: 5AN XY: 74208
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2297T>C (p.M766T) alteration is located in exon 18 (coding exon 17) of the ECEL1 gene. This alteration results from a T to C substitution at nucleotide position 2297, causing the methionine (M) at amino acid position 766 to be replaced by a threonine (T). 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