chr6-30895470-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001297654.2(DDR1):c.1580C>T(p.Pro527Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000685 in 1,606,664 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DDR1 | NM_001297654.2 | c.1580C>T | p.Pro527Leu | missense_variant | 12/18 | ENST00000376568.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDR1 | ENST00000376568.8 | c.1580C>T | p.Pro527Leu | missense_variant | 12/18 | 1 | NM_001297654.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152166Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000739 AC: 18AN: 243630Hom.: 0 AF XY: 0.0000833 AC XY: 11AN XY: 132098
GnomAD4 exome AF: 0.0000688 AC: 100AN: 1454380Hom.: 0 Cov.: 31 AF XY: 0.0000650 AC XY: 47AN XY: 723622
GnomAD4 genome ? AF: 0.0000657 AC: 10AN: 152284Hom.: 0 Cov.: 31 AF XY: 0.0000671 AC XY: 5AN XY: 74464
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.1580C>T (p.P527L) alteration is located in exon 11 (coding exon 11) of the DDR1 gene. This alteration results from a C to T substitution at nucleotide position 1580, causing the proline (P) at amino acid position 527 to be replaced by a leucine (L). 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