6-56060902-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030820.4(COL21A1):c.2341G>A(p.Asp781Asn) 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. 13/21 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL21A1 | NM_030820.4 | c.2341G>A | p.Asp781Asn | missense_variant | Exon 26 of 30 | ENST00000244728.10 | NP_110447.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL21A1 | ENST00000244728.10 | c.2341G>A | p.Asp781Asn | missense_variant | Exon 26 of 30 | 1 | NM_030820.4 | ENSP00000244728.5 | ||
COL21A1 | ENST00000370819.5 | c.2332G>A | p.Asp778Asn | missense_variant | Exon 25 of 29 | 1 | ENSP00000359855.1 | |||
COL21A1 | ENST00000488912.5 | n.*589G>A | non_coding_transcript_exon_variant | Exon 14 of 18 | 1 | ENSP00000433624.1 | ||||
COL21A1 | ENST00000488912.5 | n.*589G>A | 3_prime_UTR_variant | Exon 14 of 18 | 1 | ENSP00000433624.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2341G>A (p.D781N) alteration is located in exon 26 (coding exon 25) of the COL21A1 gene. This alteration results from a G to A substitution at nucleotide position 2341, causing the aspartic acid (D) at amino acid position 781 to be replaced by an asparagine (N). 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.