rs1057518863
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PM5PP2PP3
The NM_000094.4(COL7A1):c.8047G>T(p.Gly2683Cys) variant causes a missense, splice region change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 13/23 in silico tools predict a damaging outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G2683S) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000094.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL7A1 | NM_000094.4 | c.8047G>T | p.Gly2683Cys | missense_variant, splice_region_variant | 110/119 | ENST00000681320.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL7A1 | ENST00000681320.1 | c.8047G>T | p.Gly2683Cys | missense_variant, splice_region_variant | 110/119 | NM_000094.4 | P1 | ||
COL7A1 | ENST00000328333.12 | c.8047G>T | p.Gly2683Cys | missense_variant, splice_region_variant | 109/118 | 1 | P1 | ||
COL7A1 | ENST00000474432.1 | n.174G>T | non_coding_transcript_exon_variant | 1/2 | 3 | ||||
COL7A1 | ENST00000487017.5 | n.4686G>T | splice_region_variant, non_coding_transcript_exon_variant | 74/83 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at