NM_020404.3:c.2134C>A
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_020404.3(CD248):c.2134C>A(p.Arg712Ser) variant causes a missense 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. 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. R712C) has been classified as Uncertain significance.
Frequency
Consequence
NM_020404.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD248 | ENST00000311330.4 | c.2134C>A | p.Arg712Ser | missense_variant | Exon 1 of 1 | 6 | NM_020404.3 | ENSP00000308117.3 | ||
ENSG00000254458 | ENST00000534065.1 | n.140+1902G>T | intron_variant | Intron 1 of 1 | 4 | |||||
ENSG00000254756 | ENST00000820635.1 | n.134+2731G>T | intron_variant | Intron 1 of 3 | ||||||
ENSG00000254756 | ENST00000820636.1 | n.96+2731G>T | intron_variant | Intron 1 of 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2134C>A (p.R712S) alteration is located in exon 1 (coding exon 1) of the CD248 gene. This alteration results from a C to A substitution at nucleotide position 2134, causing the arginine (R) at amino acid position 712 to be replaced by a serine (S). 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