17-50194017-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP2
The NM_000088.4(COL1A1):c.1693C>T(p.Pro565Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,614,022 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P565L) 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.1693C>T | p.Pro565Ser | missense_variant | 25/51 | ENST00000225964.10 | |
COL1A1 | XM_011524341.2 | c.1495C>T | p.Pro499Ser | missense_variant | 22/48 | ||
COL1A1 | XM_005257058.5 | c.1693C>T | p.Pro565Ser | missense_variant | 25/49 | ||
COL1A1 | XM_005257059.5 | c.958-1324C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL1A1 | ENST00000225964.10 | c.1693C>T | p.Pro565Ser | missense_variant | 25/51 | 1 | NM_000088.4 | P1 | |
COL1A1 | ENST00000463440.1 | n.83C>T | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
COL1A1 | ENST00000471344.1 | n.725C>T | non_coding_transcript_exon_variant | 8/8 | 2 | ||||
COL1A1 | ENST00000476387.1 | n.42C>T | non_coding_transcript_exon_variant | 1/9 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251300Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135880
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727230
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at