ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Likely benign
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Apr 8, 2022
- Most recent Submission:
- Feb 7, 2023
- Last evaluated:
- Dec 2, 2021
- Accession:
- VCV001538139.4
- Variation ID:
- 1538139
- Description:
- single nucleotide variant
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NM_000021.4(PSEN1):c.213G>A (p.Glu71=)
- Allele ID
- 1619365
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 14q24.2
- Genomic location
- 14: 73170922 (GRCh38) GRCh38 UCSC
- 14: 73637630 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000021.4:c.213G>A MANE Select NP_000012.1:p.Glu71= synonymous NM_007318.3:c.201G>A NP_015557.2:p.Glu67= synonymous NC_000014.9:g.73170922G>A NC_000014.8:g.73637630G>A NG_007386.2:g.39452G>A LRG_224:g.39452G>A LRG_224t1:c.213G>A LRG_224p1:p.Glu71= - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000014.9:73170921:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Likely benign | 1 | criteria provided, single submitter | Dec 2, 2021 | RCV002159689.4 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely benign
(Dec 02, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Alzheimer disease 3
Pick disease Acne inversa, familial, 3 Frontotemporal dementia
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002340331.2
First in ClinVar: Apr 08, 2022 Last updated: Feb 07, 2023 |
|
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| There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Record last updated Feb 07, 2023