12-6445133-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001242.5(CD27):c.38G>T(p.Gly13Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000412 in 1,455,190 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. G13R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001242.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD27 | NM_001242.5 | c.38G>T | p.Gly13Val | missense_variant | 1/6 | ENST00000266557.4 | |
CD27-AS1 | NR_015382.2 | n.1517-1416C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD27 | ENST00000266557.4 | c.38G>T | p.Gly13Val | missense_variant | 1/6 | 1 | NM_001242.5 | P1 | |
CD27-AS1 | ENST00000689782.1 | n.460-1416C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000172 AC: 4AN: 232938Hom.: 0 AF XY: 0.00000791 AC XY: 1AN XY: 126452
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1455190Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 723422
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Lymphoproliferative syndrome 2 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 23, 2022 | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 13 of the CD27 protein (p.Gly13Val). This variant is present in population databases (rs769004909, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CD27-related conditions. ClinVar contains an entry for this variant (Variation ID: 863143). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at