rs41306391
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_000093.5(COL5A1):āc.1092C>Gā(p.Pro364=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,850 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P364P) has been classified as Benign.
Frequency
Consequence
NM_000093.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL5A1 | NM_000093.5 | c.1092C>G | p.Pro364= | synonymous_variant | 7/66 | ENST00000371817.8 | |
COL5A1 | NM_001278074.1 | c.1092C>G | p.Pro364= | synonymous_variant | 7/66 | ||
COL5A1 | XM_017014266.3 | c.1092C>G | p.Pro364= | synonymous_variant | 7/65 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL5A1 | ENST00000371817.8 | c.1092C>G | p.Pro364= | synonymous_variant | 7/66 | 1 | NM_000093.5 | P4 | |
COL5A1 | ENST00000371820.4 | c.1092C>G | p.Pro364= | synonymous_variant | 7/66 | 2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251280Hom.: 1 AF XY: 0.0000221 AC XY: 3AN XY: 135848
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461850Hom.: 1 Cov.: 35 AF XY: 0.0000110 AC XY: 8AN XY: 727234
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at