ClinVar Genomic variation as it relates to human health
NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del)
Variation ID: 162465 Accession: VCV000162465.1
- Type and length
-
Deletion, 15 bp
- Location
-
Cytogenetic: 1p13.1 1: 116387401-116387415 (GRCh38) [ NCBI UCSC ] 1: 116930023-116930037 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jan 17, 2015 Jan 17, 2015 Feb 17, 2013 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000701.8:c.299_313del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000692.2:p.Phe100_Leu104del inframe deletion NM_001160233.2:c.299_313del NP_001153705.1:p.Phe100_Leu104del inframe deletion NM_001160234.2:c.206_220del NP_001153706.1:p.Phe69_Leu73del inframe deletion NC_000001.11:g.116387403_116387417del NC_000001.10:g.116930025_116930039del NG_047036.1:g.20219_20233del - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000001.11:116387400:GTTCTCAATGTTACTGT:GT
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| ATP1A1 | - | - |
GRCh38 GRCh37 |
312 | 741 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
no assertion criteria provided
|
Feb 17, 2013 | RCV000149850.4 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Feb 17, 2013)
|
no assertion criteria provided
Method: research
|
Aldosterone Producing Adrenal Cortex Adenoma
Affected status: yes
Allele origin:
somatic
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
Accession: SCV000196696.2
First in ClinVar: Jan 17, 2015 Last updated: Jan 17, 2015 |
Observation 1:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 2:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 3:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 4:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 5:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 6:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 7:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 8:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 9:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 10:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 11:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 12:
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
Observation 13:
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: Causasian
Geographic origin: Germany
Tissue: aldosterone-producing adrenal adenoma
|
Germline Functional Evidence
| 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 germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs724160008 ...
HelpRecord last updated Jun 23, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.