chr12-6814296-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000616.5(CD4):c.369C>A(p.Phe123Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,461,302 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. F123F) has been classified as Benign.
Frequency
Consequence
NM_000616.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD4 | NM_000616.5 | c.369C>A | p.Phe123Leu | missense_variant | 4/10 | ENST00000011653.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD4 | ENST00000011653.9 | c.369C>A | p.Phe123Leu | missense_variant | 4/10 | 1 | NM_000616.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 250786Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135572
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461302Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 726916
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 22, 2023 | The c.369C>A (p.F123L) alteration is located in exon 4 (coding exon 3) of the CD4 gene. This alteration results from a C to A substitution at nucleotide position 369, causing the phenylalanine (F) at amino acid position 123 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