NM_005236.3:c.1727G>T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_005236.3(ERCC4):c.1727G>T(p.Arg576Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,840 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. R576T) has been classified as Likely benign.
Frequency
Consequence
NM_005236.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERCC4 | NM_005236.3 | c.1727G>T | p.Arg576Ile | missense_variant | Exon 8 of 11 | ENST00000311895.8 | NP_005227.1 | |
ERCC4 | XM_011522424.4 | c.1865G>T | p.Arg622Ile | missense_variant | Exon 9 of 12 | XP_011520726.1 | ||
ERCC4 | XM_047433774.1 | c.938G>T | p.Arg313Ile | missense_variant | Exon 5 of 8 | XP_047289730.1 | ||
ERCC4 | XM_011522427.2 | c.377G>T | p.Arg126Ile | missense_variant | Exon 3 of 6 | XP_011520729.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461840Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727218
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at