ClinVar Genomic variation as it relates to human health
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu)
Germline
Classification
(3)
Benign
criteria provided, single submitter
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 | |||
PRLR | - | - |
GRCh38 GRCh37 |
34 | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Jan 6, 2020 | RCV000074480.14 | |
Benign (1) |
|
Jul 16, 2019 | RCV003974953.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs72478580 ...
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 18779591 to determine the location of this allele on current reference sequence. The sequence in Fig. 2A shows that the variant can be mapped to NP_000940.1:p.I170L.