chr2-232480239-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004826.4(ECEL1):c.2242G>T(p.Val748Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000929 in 1,613,876 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004826.4 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 |
---|---|---|---|---|---|---|---|---|
ECEL1 | NM_004826.4 | c.2242G>T | p.Val748Leu | missense_variant | Exon 18 of 18 | ENST00000304546.6 | NP_004817.2 | |
ECEL1 | NM_001290787.2 | c.2236G>T | p.Val746Leu | 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.2242G>T | p.Val748Leu | missense_variant | Exon 18 of 18 | 1 | NM_004826.4 | ENSP00000302051.1 | ||
ECEL1 | ENST00000409941.1 | c.2236G>T | p.Val746Leu | missense_variant | Exon 17 of 17 | 1 | ENSP00000386333.1 | |||
ECEL1 | ENST00000411860.5 | c.421G>T | p.Val141Leu | missense_variant | Exon 6 of 6 | 3 | ENSP00000412683.1 | |||
ECEL1 | ENST00000482346.1 | n.2553G>T | non_coding_transcript_exon_variant | Exon 17 of 17 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152160Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461716Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727172
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152160Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2242G>T (p.V748L) alteration is located in exon 18 (coding exon 17) of the ECEL1 gene. This alteration results from a G to T substitution at nucleotide position 2242, causing the valine (V) at amino acid position 748 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