rs121912853
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PVS1PM2PP5
The NM_000094.4(COL7A1):c.8245G>T(p.Gly2749Ter) variant causes a stop gained change. The variant allele was found at a frequency of 0.00000657 in 152,190 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. G2749G) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000094.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL7A1 | NM_000094.4 | c.8245G>T | p.Gly2749Ter | stop_gained | 112/119 | ENST00000681320.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL7A1 | ENST00000681320.1 | c.8245G>T | p.Gly2749Ter | stop_gained | 112/119 | NM_000094.4 | P1 | ||
COL7A1 | ENST00000328333.12 | c.8245G>T | p.Gly2749Ter | stop_gained | 111/118 | 1 | P1 | ||
COL7A1 | ENST00000474432.1 | n.645G>T | non_coding_transcript_exon_variant | 1/2 | 3 | ||||
COL7A1 | ENST00000487017.5 | n.4884G>T | non_coding_transcript_exon_variant | 76/83 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152072Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 37
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74396
ClinVar
Submissions by phenotype
Recessive dystrophic epidermolysis bullosa Pathogenic:1
Likely pathogenic, no assertion criteria provided | clinical testing | Narges Medical Genetic and Prenatal Diagnosis Lab | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at