1-85730563-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152890.7(COL24A1):c.5128T>A(p.Ser1710Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152890.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL24A1 | NM_152890.7 | c.5128T>A | p.Ser1710Thr | missense_variant | 60/60 | ENST00000370571.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL24A1 | ENST00000370571.7 | c.5128T>A | p.Ser1710Thr | missense_variant | 60/60 | 1 | NM_152890.7 | P1 | |
COL24A1 | ENST00000426639.5 | c.*2515T>A | 3_prime_UTR_variant, NMD_transcript_variant | 59/59 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2021 | The c.5128T>A (p.S1710T) alteration is located in exon 60 (coding exon 60) of the COL24A1 gene. This alteration results from a T to A substitution at nucleotide position 5128, causing the serine (S) at amino acid position 1710 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.