6-30891422-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001297654.2(DDR1):āc.608A>Gā(p.Tyr203Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000292 in 1,608,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001297654.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DDR1 | NM_001297654.2 | c.608A>G | p.Tyr203Cys | missense_variant | Exon 6 of 18 | ENST00000376568.8 | NP_001284583.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151736Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000406 AC: 10AN: 246506Hom.: 0 AF XY: 0.0000521 AC XY: 7AN XY: 134364
GnomAD4 exome AF: 0.0000295 AC: 43AN: 1457014Hom.: 0 Cov.: 32 AF XY: 0.0000386 AC XY: 28AN XY: 724932
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151858Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.608A>G (p.Y203C) alteration is located in exon 5 (coding exon 5) of the DDR1 gene. This alteration results from a A to G substitution at nucleotide position 608, causing the tyrosine (Y) at amino acid position 203 to be replaced by a cysteine (C). 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