rs1800124
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_005236.3(ERCC4):āc.2624A>Gā(p.Glu875Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0153 in 1,614,176 control chromosomes in the GnomAD database, including 255 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_005236.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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ERCC4 | NM_005236.3 | c.2624A>G | p.Glu875Gly | missense_variant | Exon 11 of 11 | ENST00000311895.8 | NP_005227.1 | |
ERCC4 | XM_011522424.4 | c.2762A>G | p.Glu921Gly | missense_variant | Exon 12 of 12 | XP_011520726.1 | ||
ERCC4 | XM_047433774.1 | c.1835A>G | p.Glu612Gly | missense_variant | Exon 8 of 8 | XP_047289730.1 | ||
ERCC4 | XM_011522427.2 | c.1274A>G | p.Glu425Gly | missense_variant | Exon 6 of 6 | XP_011520729.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0119 AC: 1815AN: 152172Hom.: 16 Cov.: 32
GnomAD3 exomes AF: 0.0133 AC: 3345AN: 251420Hom.: 34 AF XY: 0.0136 AC XY: 1845AN XY: 135876
GnomAD4 exome AF: 0.0157 AC: 22892AN: 1461886Hom.: 239 Cov.: 33 AF XY: 0.0156 AC XY: 11315AN XY: 727248
GnomAD4 genome AF: 0.0119 AC: 1817AN: 152290Hom.: 16 Cov.: 32 AF XY: 0.0123 AC XY: 919AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:5
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This variant is associated with the following publications: (PMID: 28051113, 17419091, 24728327, 20061190, 22374244, 15886521, 10479728, 24465539, 18767034, 28690523, 19626602, 24704021, 24004570) -
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not specified Benign:3Other:1
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Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. -
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Xeroderma pigmentosum, group F Benign:2
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This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. -
Cockayne syndrome;C0268140:Xeroderma pigmentosum, group F;C3808988:Fanconi anemia complementation group Q Benign:1
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Hereditary cancer-predisposing syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at