6-56070758-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030820.4(COL21A1):c.2006C>T(p.Ala669Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000404 in 1,588,206 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030820.4 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 |
---|---|---|---|---|---|---|---|
COL21A1 | NM_030820.4 | c.2006C>T | p.Ala669Val | missense_variant | 21/30 | ENST00000244728.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL21A1 | ENST00000244728.10 | c.2006C>T | p.Ala669Val | missense_variant | 21/30 | 1 | NM_030820.4 | A1 |
Frequencies
GnomAD3 genomes AF: 0.000284 AC: 43AN: 151380Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000136 AC: 31AN: 227148Hom.: 0 AF XY: 0.000130 AC XY: 16AN XY: 123380
GnomAD4 exome AF: 0.000416 AC: 598AN: 1436826Hom.: 1 Cov.: 29 AF XY: 0.000378 AC XY: 270AN XY: 714216
GnomAD4 genome AF: 0.000284 AC: 43AN: 151380Hom.: 0 Cov.: 32 AF XY: 0.000311 AC XY: 23AN XY: 73894
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2023 | The c.2006C>T (p.A669V) alteration is located in exon 21 (coding exon 20) of the COL21A1 gene. This alteration results from a C to T substitution at nucleotide position 2006, causing the alanine (A) at amino acid position 669 to be replaced by a valine (V). 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