rs368011067
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_000093.5(COL5A1):c.4290C>A(p.Ala1430=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,611,006 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A1430A) has been classified as Likely benign.
Frequency
Consequence
NM_000093.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL5A1 | NM_000093.5 | c.4290C>A | p.Ala1430= | synonymous_variant | 55/66 | ENST00000371817.8 | |
COL5A1 | NM_001278074.1 | c.4290C>A | p.Ala1430= | synonymous_variant | 55/66 | ||
COL5A1 | XM_017014266.3 | c.4290C>A | p.Ala1430= | synonymous_variant | 55/65 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL5A1 | ENST00000371817.8 | c.4290C>A | p.Ala1430= | synonymous_variant | 55/66 | 1 | NM_000093.5 | P4 | |
COL5A1 | ENST00000371820.4 | c.4290C>A | p.Ala1430= | synonymous_variant | 55/66 | 2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.000145 AC: 22AN: 151970Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000415 AC: 1AN: 240926Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131968
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459036Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 725740
GnomAD4 genome ? AF: 0.000145 AC: 22AN: 151970Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74242
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at