2-203734856-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006139.4(CD28):c.607C>T(p.Arg203Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,614,092 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006139.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CD28 | NM_006139.4 | c.607C>T | p.Arg203Cys | missense_variant | Exon 4 of 4 | ENST00000324106.9 | NP_006130.1 | |
CD28 | NM_001410981.1 | c.649C>T | p.Arg217Cys | missense_variant | Exon 4 of 4 | NP_001397910.1 | ||
CD28 | NM_001243077.2 | c.316C>T | p.Arg106Cys | missense_variant | Exon 4 of 4 | NP_001230006.1 | ||
CD28 | NM_001243078.2 | c.250C>T | p.Arg84Cys | missense_variant | Exon 3 of 3 | NP_001230007.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD28 | ENST00000324106.9 | c.607C>T | p.Arg203Cys | missense_variant | Exon 4 of 4 | 1 | NM_006139.4 | ENSP00000324890.7 | ||
CD28 | ENST00000458610.6 | c.649C>T | p.Arg217Cys | missense_variant | Exon 4 of 4 | 1 | ENSP00000393648.2 | |||
CD28 | ENST00000374481.7 | c.250C>T | p.Arg84Cys | missense_variant | Exon 3 of 3 | 1 | ENSP00000363605.4 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250682Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135634
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727238
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152224Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.607C>T (p.R203C) alteration is located in exon 4 (coding exon 4) of the CD28 gene. This alteration results from a C to T substitution at nucleotide position 607, causing the arginine (R) 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