rs113950465
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP2
The NM_000088.4(COL1A1):c.1882G>T(p.Ala628Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 11/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A628T) has been classified as Likely benign.
Frequency
Consequence
NM_000088.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL1A1 | NM_000088.4 | c.1882G>T | p.Ala628Ser | missense_variant | 28/51 | ENST00000225964.10 | |
COL1A1 | XM_011524341.2 | c.1684G>T | p.Ala562Ser | missense_variant | 25/48 | ||
COL1A1 | XM_005257058.5 | c.1882G>T | p.Ala628Ser | missense_variant | 28/49 | ||
COL1A1 | XM_005257059.5 | c.964G>T | p.Ala322Ser | missense_variant | 15/38 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL1A1 | ENST00000225964.10 | c.1882G>T | p.Ala628Ser | missense_variant | 28/51 | 1 | NM_000088.4 | P1 | |
COL1A1 | ENST00000476387.1 | n.231G>T | non_coding_transcript_exon_variant | 4/9 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at