ClinVar Genomic variation as it relates to human health
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)
Germline
Classification
(5)
Likely pathogenic
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 | |||
CALM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
96 | 161 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (4) |
|
Jul 22, 2020 | RCV000032976.40 | |
Likely pathogenic (1) |
|
May 5, 2014 | RCV000157133.9 |
Citations for germline classification of this variant
HelpText-mined citations for rs267607276 ...
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 May 01, 2024
NCBI staff reviewed the sequence information reported in PubMed 23040497 to determine the location of this allele on the current reference sequence. Their numbering of Asn53Ile, if begun at Met1, will be Asn54Ile.