rs141790888
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005236.3(ERCC4):c.2477C>A(p.Ala826Glu) 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. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A826V) has been classified as Uncertain significance.
Frequency
Consequence
NM_005236.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERCC4 | NM_005236.3 | c.2477C>A | p.Ala826Glu | missense_variant | 11/11 | ENST00000311895.8 | |
ERCC4 | XM_011522424.4 | c.2615C>A | p.Ala872Glu | missense_variant | 12/12 | ||
ERCC4 | XM_047433774.1 | c.1688C>A | p.Ala563Glu | missense_variant | 8/8 | ||
ERCC4 | XM_011522427.2 | c.1127C>A | p.Ala376Glu | missense_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERCC4 | ENST00000311895.8 | c.2477C>A | p.Ala826Glu | missense_variant | 11/11 | 1 | NM_005236.3 | P1 | |
ERCC4 | ENST00000682617.1 | c.2615C>A | p.Ala872Glu | missense_variant | 12/12 | ||||
ERCC4 | ENST00000389138.7 | n.1754C>A | non_coding_transcript_exon_variant | 6/6 | 2 | ||||
ERCC4 | ENST00000683962.1 | c.*2171C>A | 3_prime_UTR_variant, NMD_transcript_variant | 12/12 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.