rs1555775416
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PVS1_StrongPM2PP5_Moderate
The NM_000400.4(ERCC2):c.2092C>T(p.Gln698Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★). Synonymous variant affecting the same amino acid position (i.e. Q698Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_000400.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERCC2 | NM_000400.4 | c.2092C>T | p.Gln698Ter | stop_gained | 22/23 | ENST00000391945.10 | |
ERCC2 | XM_011526611.3 | c.2014C>T | p.Gln672Ter | stop_gained | 21/22 | ||
ERCC2 | XR_001753633.3 | n.2125C>T | non_coding_transcript_exon_variant | 22/24 | |||
ERCC2 | XR_007066680.1 | n.2047C>T | non_coding_transcript_exon_variant | 21/23 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERCC2 | ENST00000391945.10 | c.2092C>T | p.Gln698Ter | stop_gained | 22/23 | 1 | NM_000400.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 37
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Cerebrooculofacioskeletal syndrome 2 Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | Jan 09, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at