ClinVar Genomic variation as it relates to human health
NM_000616.5(CD4):c.793C>T (p.Arg265Trp)
Germline
Classification
(4)
Benign
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CD4 | - | - |
GRCh38 GRCh37 |
38 | 88 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Jan 6, 2020 | RCV000022781.28 | |
Benign (1) |
|
Oct 28, 2020 | RCV001777144.1 | |
Benign (1) |
|
Dec 20, 2019 | RCV003964810.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs28919570 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Mar 17, 2024
NCBI staff reviewed the sequence information reported in PubMed 1708753 to determine the location of this allele on the current reference sequence. The sequencing shown in Fig. 2 shows a variant that can be mapped to mature protein Arg240Trp, or to Arg265Trp in the unprocessed native translation, with the difference due to a 25-AA signal peptide.