rs61729223
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_000094.4(COL7A1):c.6696C>T(p.Pro2232=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000164 in 1,461,710 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. P2232P) has been classified as Likely benign.
Frequency
Consequence
NM_000094.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL7A1 | NM_000094.4 | c.6696C>T | p.Pro2232= | synonymous_variant | 85/119 | ENST00000681320.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL7A1 | ENST00000681320.1 | c.6696C>T | p.Pro2232= | synonymous_variant | 85/119 | NM_000094.4 | P1 | ||
COL7A1 | ENST00000328333.12 | c.6696C>T | p.Pro2232= | synonymous_variant | 84/118 | 1 | P1 | ||
COL7A1 | ENST00000487017.5 | n.2613C>T | non_coding_transcript_exon_variant | 50/83 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250482Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135534
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461710Hom.: 0 Cov.: 37 AF XY: 0.0000220 AC XY: 16AN XY: 727138
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 16, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at