5-10683530-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004394.3(DAP):c.194G>T(p.Arg65Leu) variant causes a missense, splice region change. The variant was absent in control chromosomes in GnomAD project. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R65W) has been classified as Uncertain significance.
Frequency
Consequence
NM_004394.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DAP | ENST00000230895.11 | c.194G>T | p.Arg65Leu | missense_variant, splice_region_variant | Exon 3 of 4 | 1 | NM_004394.3 | ENSP00000230895.7 | ||
DAP | ENST00000432074.2 | c.153-2361G>T | intron_variant | Intron 2 of 2 | 2 | ENSP00000394163.2 | ||||
DAP | ENST00000508253.5 | n.351G>T | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 | |||||
DAP | ENST00000514882.5 | n.262G>T | non_coding_transcript_exon_variant | Exon 3 of 4 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.194G>T (p.R65L) alteration is located in exon 3 (coding exon 3) of the DAP gene. This alteration results from a G to T substitution at nucleotide position 194, causing the arginine (R) at amino acid position 65 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
Publications
No publications associated with this variant yet.