7-101363181-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001278563.3(COL26A1):āc.149C>Gā(p.Ala50Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000877 in 1,482,570 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 (ā ).
Frequency
Consequence
NM_001278563.3 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 |
---|---|---|---|---|---|---|---|
COL26A1 | NM_001278563.3 | c.149C>G | p.Ala50Gly | missense_variant | 1/13 | ENST00000313669.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL26A1 | ENST00000313669.12 | c.149C>G | p.Ala50Gly | missense_variant | 1/13 | 1 | NM_001278563.3 | P4 | |
COL26A1 | ENST00000613501.1 | c.149C>G | p.Ala50Gly | missense_variant | 1/13 | 1 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000345 AC: 5AN: 144912Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.0000323 AC: 3AN: 93002Hom.: 0 AF XY: 0.0000192 AC XY: 1AN XY: 52202
GnomAD4 exome AF: 0.00000598 AC: 8AN: 1337658Hom.: 0 Cov.: 39 AF XY: 0.00000455 AC XY: 3AN XY: 659038
GnomAD4 genome AF: 0.0000345 AC: 5AN: 144912Hom.: 0 Cov.: 26 AF XY: 0.0000142 AC XY: 1AN XY: 70534
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 03, 2022 | The c.149C>G (p.A50G) alteration is located in exon 1 (coding exon 1) of the COL26A1 gene. This alteration results from a C to G substitution at nucleotide position 149, causing the alanine (A) at amino acid position 50 to be replaced by a glycine (G). 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