rs145811554
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_001848.3(COL6A1):c.285C>T(p.Asp95=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000682 in 1,612,078 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.
Frequency
Consequence
NM_001848.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL6A1 | NM_001848.3 | c.285C>T | p.Asp95= | synonymous_variant | 3/35 | ENST00000361866.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL6A1 | ENST00000361866.8 | c.285C>T | p.Asp95= | synonymous_variant | 3/35 | 1 | NM_001848.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000328 AC: 5AN: 152244Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 247832Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134700
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1459834Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726174
GnomAD4 genome ? AF: 0.0000328 AC: 5AN: 152244Hom.: 0 Cov.: 35 AF XY: 0.0000269 AC XY: 2AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at