rs202237834
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PP2PP3
The NM_000094.4(COL7A1):c.2392G>A(p.Gly798Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000545 in 1,613,664 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. G798G) has been classified as Likely benign.
Frequency
Consequence
NM_000094.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL7A1 | NM_000094.4 | c.2392G>A | p.Gly798Arg | missense_variant | 19/119 | ENST00000681320.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL7A1 | ENST00000681320.1 | c.2392G>A | p.Gly798Arg | missense_variant | 19/119 | NM_000094.4 | P1 | ||
COL7A1 | ENST00000328333.12 | c.2392G>A | p.Gly798Arg | missense_variant | 18/118 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000138 AC: 21AN: 152242Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000255 AC: 64AN: 251142Hom.: 1 AF XY: 0.000272 AC XY: 37AN XY: 135826
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461304Hom.: 1 Cov.: 34 AF XY: 0.0000481 AC XY: 35AN XY: 726970
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152360Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74496
ClinVar
Submissions by phenotype
Epidermolysis bullosa dystrophica Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 27, 2017 | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. - |
Epidermolysis bullosa dystrophica inversa, autosomal recessive Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Jan 09, 2020 | - - |
Recessive dystrophic epidermolysis bullosa;C0432322:Generalized dominant dystrophic epidermolysis bullosa Uncertain:1
Uncertain significance, criteria provided, single submitter | reference population | Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | Mar 18, 2016 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at