rs1057519790
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP2PP3_Strong
The NM_006182.4(DDR2):c.2321G>A(p.Gly774Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G774V) has been classified as Likely pathogenic.
Frequency
Consequence
NM_006182.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DDR2 | NM_006182.4 | c.2321G>A | p.Gly774Glu | missense_variant | 17/18 | ENST00000367921.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDR2 | ENST00000367921.8 | c.2321G>A | p.Gly774Glu | missense_variant | 17/18 | 1 | NM_006182.4 | P1 | |
DDR2 | ENST00000367922.7 | c.2321G>A | p.Gly774Glu | missense_variant | 18/19 | 1 | P1 | ||
DDR2 | ENST00000446985.6 | c.2321G>A | p.Gly774Glu | missense_variant | 17/18 | 3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.