ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- May 30, 2015
- Most recent Submission:
- May 30, 2015
- Last evaluated:
- Dec 15, 2011
- Accession:
- VCV000050372.2
- Variation ID:
- 50372
- Description:
- single nucleotide variant
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NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter)
- Allele ID
- 59495
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 2q14.2
- Genomic location
- 2: 119245796 (GRCh38) GRCh38 UCSC
- 2: 120003372 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_182915.3:c.330C>A MANE Select NP_878919.2:p.Cys110Ter nonsense NM_001008410.2:c.300C>A NP_001008410.1:p.Cys100Ter nonsense NM_018234.3:c.300C>A NP_060704.2:p.Cys100Ter nonsense NM_138637.3:c.300C>A NP_619543.2:p.Cys100Ter nonsense NR_046721.1:n.1844G>T NC_000002.12:g.119245796C>A NC_000002.11:g.120003372C>A NG_042823.1:g.26989C>A - Protein change
- C100*, C110*
- Other names
- -
- Canonical SPDI
- NC_000002.12:119245795:C:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA214416
- OMIM: 609671.0001
- dbSNP: rs587776963
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Dec 15, 2011 | RCV000043521.4 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Dec 15, 2011)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000067391.2
First in ClinVar: May 18, 2013 Last updated: May 30, 2015 |
Comment on evidence:
In 3 sibs with hypochromic microcytic anemia and iron overload (615234), born of nonconsanguineous Pakistani parents, Grandchamp et al. (2011) identified heterozygosity for a c.300C-A … (more)
In 3 sibs with hypochromic microcytic anemia and iron overload (615234), born of nonconsanguineous Pakistani parents, Grandchamp et al. (2011) identified heterozygosity for a c.300C-A transition in exon 3 of the STEAP3 gene, resulting in a cys100-to-ter (C100X) substitution. The mutation was inherited from their unaffected father and was not found in their unaffected mother or 200 control chromosomes. Quantitative RT-PCR from blood mRNA of all 5 family members and 10 controls showed that the STEAP3 mRNA level was considerably lower in the 3 patients, whereas both parents had a level of STEAP3 mRNA corresponding to the low-normal range found in controls. In B lymphocyte-cell lines treated to prevent degradation due to nonsense-mediated mRNA decay, quantitative sequencing of a cDNA fragment encompassing the mutated nucleotide demonstrated that expression of the normal allele relative to that of the mutated allele was significantly higher in the father than in the 3 sibs. Grandchamp et al. (2011) suggested that the father was heterozygous with 1 null allele and 1 normal, highly expressed allele, whereas the mother had 2 weakly expressed alleles, and each affected offspring had inherited the mutated allele from their father and 1 of the weakly expressed alleles from their mother. This was supported by the fact that expression of both alleles from the mother produced an amount of mRNA that was roughly equivalent to the expression products from the single normal allele of the father. (less)
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. | Grandchamp B | Blood | 2011 | PMID: 22031863 |
Text-mined citations for rs587776963...
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 Apr 25, 2022