Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 2
- First in ClinVar:
- Jun 28, 2020
- Most recent Submission:
- Jun 27, 2020
- Last evaluated:
- Feb 7, 2011
- Accession:
- VCV000929712.2
- Variation ID:
- 929712
- Description:
- single nucleotide variant
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NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)
- Allele ID
- 918031
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 15q26.1
- Genomic location
- 15: 89247649 (GRCh38) GRCh38 UCSC
- 15: 89790880 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001113378.2:c.2T>C MANE Select NP_001106849.1:p.Met1Thr missense NM_001376910.1:c.-273T>C 5 prime UTR NM_001376911.1:c.2T>C NP_001363840.1:p.Met1Thr missense NM_018193.3:c.2T>C NP_060663.2:p.Met1Thr missense NC_000015.10:g.89247649T>C NC_000015.9:g.89790880T>C NG_011736.1:g.8687T>C LRG_500:g.8687T>C LRG_500t1:c.2T>C - Protein change
- M1T
- Other names
- 2T-C
- Canonical SPDI
- NC_000015.10:89247648:T:C
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- LOVD 3: FANCI_000001
- OMIM: 611360.0001
- dbSNP: rs2052048258
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 2 | no assertion criteria provided | Feb 7, 2011 | RCV001194980.2 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Jun 01, 2007)
|
no assertion criteria provided
Method: literature only
|
FANCONI ANEMIA, COMPLEMENTATION GROUP I
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000021172.4
First in ClinVar: Apr 04, 2013 Last updated: Oct 09, 2016 |
Comment on evidence:
In a Turkish female with Fanconi anemia complementation group I (FANCI; 609053), Dorsman et al. (2007) identified a homozygous T-to-C transition at nucleotide 2 of … (more)
In a Turkish female with Fanconi anemia complementation group I (FANCI; 609053), Dorsman et al. (2007) identified a homozygous T-to-C transition at nucleotide 2 of the FANCI cDNA, resulting in removal of the translation initiation site. The patient had consanguineous parents and died at age 6.5 years. Sims et al. (2007) identified the same mutation and noted that it produces a new start codon at met94. (less)
|
|
|
Pathogenic
(Feb 07, 2011)
|
no assertion criteria provided
Method: curation
|
Fanconi anemia complementation group I
Affected status: yes
Allele origin:
germline
|
Leiden Open Variation Database
Accession: SCV001364854.1
First in ClinVar: Jun 27, 2020 Last updated: Jun 27, 2020 |
Comment:
Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
|
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 |
|---|---|---|---|---|
| FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. | Sims AE | Nature structural & molecular biology | 2007 | PMID: 17460694 |
| Identification of the Fanconi anemia complementation group I gene, FANCI. | Dorsman JC | Cellular oncology : the official journal of the International Society for Cellular Oncology | 2007 | PMID: 17452773 |
Text-mined citations for rs2052048258...
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 24, 2022