chr5-60887466-A-AT
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_000082.4(ERCC8):c.1095_1096insA(p.Tyr366IlefsTer2) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,613,696 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. L365L) has been classified as Likely benign.
Frequency
Consequence
NM_000082.4 frameshift
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERCC8 | NM_000082.4 | c.1095_1096insA | p.Tyr366IlefsTer2 | frameshift_variant | 11/12 | ENST00000676185.1 | |
ERCC8 | NM_001007233.3 | c.921_922insA | p.Tyr308IlefsTer2 | frameshift_variant | 12/13 | ||
ERCC8 | NM_001290285.2 | c.636_637insA | p.Tyr213IlefsTer2 | frameshift_variant | 10/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERCC8 | ENST00000676185.1 | c.1095_1096insA | p.Tyr366IlefsTer2 | frameshift_variant | 11/12 | NM_000082.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152254Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251446Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135894
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461442Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727074
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152254Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74394
ClinVar
Submissions by phenotype
Cockayne syndrome type 1 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | Nov 21, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at