chr7-101544030-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001278563.3(COL26A1):c.637G>C(p.Ala213Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,444,224 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001278563.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL26A1 | NM_001278563.3 | c.637G>C | p.Ala213Pro | missense_variant | 6/13 | ENST00000313669.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL26A1 | ENST00000313669.12 | c.637G>C | p.Ala213Pro | missense_variant | 6/13 | 1 | NM_001278563.3 | P4 | |
COL26A1 | ENST00000613501.1 | c.631G>C | p.Ala211Pro | missense_variant | 6/13 | 1 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000925 AC: 2AN: 216104Hom.: 0 AF XY: 0.00000850 AC XY: 1AN XY: 117602
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1444224Hom.: 0 Cov.: 31 AF XY: 0.00000140 AC XY: 1AN XY: 716526
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 25, 2023 | The c.631G>C (p.A211P) alteration is located in exon 6 (coding exon 6) of the COL26A1 gene. This alteration results from a G to C substitution at nucleotide position 631, causing the alanine (A) at amino acid position 211 to be replaced by a proline (P). 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