rs572439259
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005236.3(ERCC4):c.1415C>A(p.Pro472His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,890 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P472L) 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERCC4 | NM_005236.3 | c.1415C>A | p.Pro472His | missense_variant | 8/11 | ENST00000311895.8 | |
ERCC4 | XM_011522424.4 | c.1553C>A | p.Pro518His | missense_variant | 9/12 | ||
ERCC4 | XM_047433774.1 | c.626C>A | p.Pro209His | missense_variant | 5/8 | ||
ERCC4 | XM_011522427.2 | c.65C>A | p.Pro22His | missense_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERCC4 | ENST00000311895.8 | c.1415C>A | p.Pro472His | missense_variant | 8/11 | 1 | NM_005236.3 | P1 | |
ENST00000570663.1 | n.219+70G>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245696Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133082
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457890Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725150
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at