rs2230263
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_006854.4(KDELR2):c.405A>T(p.Leu135Leu) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L135L) has been classified as Benign.
Frequency
Consequence
NM_006854.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KDELR2 | NM_006854.4 | c.405A>T | p.Leu135Leu | synonymous_variant | Exon 4 of 5 | ENST00000258739.9 | NP_006845.1 | |
KDELR2 | NM_001100603.2 | c.352-3095A>T | intron_variant | Intron 3 of 3 | NP_001094073.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 152100Hom.: 0 Cov.: 30 FAILED QC
GnomAD4 exome Cov.: 54
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152100Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74296
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at