3-48578934-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_000094.4(COL7A1):c.5409G>A(p.Gly1803Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,704 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G1803G) has been classified as Likely benign.
Frequency
Consequence
NM_000094.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL7A1 | ENST00000681320.1 | c.5409G>A | p.Gly1803Gly | synonymous_variant | Exon 63 of 119 | NM_000094.4 | ENSP00000506558.1 | |||
COL7A1 | ENST00000328333.12 | c.5409G>A | p.Gly1803Gly | synonymous_variant | Exon 62 of 118 | 1 | ENSP00000332371.8 | |||
MIR711 | ENST00000390201.1 | n.44G>A | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 | |||||
COL7A1 | ENST00000487017.5 | n.1326G>A | non_coding_transcript_exon_variant | Exon 28 of 83 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250844Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135742
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461704Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727144
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at