19-45352262-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 6P and 2B. PM1PM2PM5BP4_Moderate
The NM_000400.4(ERCC2):c.2137G>A(p.Gly713Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,798 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G713A) has been classified as Uncertain significance.
Frequency
Consequence
NM_000400.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERCC2 | NM_000400.4 | c.2137G>A | p.Gly713Ser | missense_variant | Exon 22 of 23 | ENST00000391945.10 | NP_000391.1 | |
ERCC2 | XM_011526611.3 | c.2059G>A | p.Gly687Ser | missense_variant | Exon 21 of 22 | XP_011524913.1 | ||
ERCC2 | XR_001753633.3 | n.2170G>A | non_coding_transcript_exon_variant | Exon 22 of 24 | ||||
ERCC2 | XR_007066680.1 | n.2092G>A | non_coding_transcript_exon_variant | Exon 21 of 23 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461798Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727194
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The p.G713S variant (also known as c.2137G>A), located in coding exon 22 of the ERCC2 gene, results from a G to A substitution at nucleotide position 2137. The glycine at codon 713 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.