ClinVar Genomic variation as it relates to human health
NM_000053.4(ATP7B):c.703_705del (p.Pro235del)
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
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NM_000053.4(ATP7B):c.703_705del (p.Pro235del)
Variation ID: 2571604 Accession: VCV002571604.2
- Type and length
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Deletion, 3 bp
- Location
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Cytogenetic: 13q14.3 13: 51974515-51974517 (GRCh38) [ NCBI UCSC ] 13: 52548651-52548653 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Jul 17, 2023 Jul 16, 2023 Jul 11, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000053.4:c.703_705del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000044.2:p.Pro235del inframe deletion NM_001005918.3:c.703_705del NP_001005918.1:p.Pro235del inframe deletion NM_001243182.2:c.703_705del NP_001230111.1:p.Pro235del inframe deletion NM_001330578.2:c.703_705del NP_001317507.1:p.Pro235del inframe deletion NM_001330579.2:c.703_705del NP_001317508.1:p.Pro235del inframe deletion NM_001406511.1:c.703_705del NP_001393440.1:p.Pro235del inframe deletion NM_001406512.1:c.703_705del NP_001393441.1:p.Pro235del inframe deletion NM_001406513.1:c.703_705del NP_001393442.1:p.Pro235del inframe deletion NM_001406514.1:c.703_705del NP_001393443.1:p.Pro235del inframe deletion NM_001406515.1:c.703_705del NP_001393444.1:p.Pro235del inframe deletion NM_001406516.1:c.703_705del NP_001393445.1:p.Pro235del inframe deletion NM_001406517.1:c.607_609del NP_001393446.1:p.Pro203del inframe deletion NM_001406518.1:c.607_609del NP_001393447.1:p.Pro203del inframe deletion NM_001406519.1:c.703_705del NP_001393448.1:p.Pro235del inframe deletion NM_001406520.1:c.703_705del NP_001393449.1:p.Pro235del inframe deletion NM_001406521.1:c.703_705del NP_001393450.1:p.Pro235del inframe deletion NM_001406522.1:c.703_705del NP_001393451.1:p.Pro235del inframe deletion NM_001406523.1:c.703_705del NP_001393452.1:p.Pro235del inframe deletion NM_001406524.1:c.703_705del NP_001393453.1:p.Pro235del inframe deletion NM_001406525.1:c.703_705del NP_001393454.1:p.Pro235del inframe deletion NM_001406526.1:c.703_705del NP_001393455.1:p.Pro235del inframe deletion NM_001406527.1:c.703_705del NP_001393456.1:p.Pro235del inframe deletion NM_001406528.1:c.703_705del NP_001393457.1:p.Pro235del inframe deletion NM_001406530.1:c.607_609del NP_001393459.1:p.Pro203del inframe deletion NM_001406531.1:c.703_705del NP_001393460.1:p.Pro235del inframe deletion NM_001406532.1:c.703_705del NP_001393461.1:p.Pro235del inframe deletion NM_001406534.1:c.703_705del NP_001393463.1:p.Pro235del inframe deletion NM_001406535.1:c.703_705del NP_001393464.1:p.Pro235del inframe deletion NM_001406536.1:c.607_609del NP_001393465.1:p.Pro203del inframe deletion NM_001406537.1:c.703_705del NP_001393466.1:p.Pro235del inframe deletion NM_001406538.1:c.703_705del NP_001393467.1:p.Pro235del inframe deletion NM_001406539.1:c.607_609del NP_001393468.1:p.Pro203del inframe deletion NM_001406540.1:c.703_705del NP_001393469.1:p.Pro235del inframe deletion NM_001406541.1:c.703_705del NP_001393470.1:p.Pro235del inframe deletion NM_001406542.1:c.703_705del NP_001393471.1:p.Pro235del inframe deletion NM_001406543.1:c.607_609del NP_001393472.1:p.Pro203del inframe deletion NM_001406544.1:c.607_609del NP_001393473.1:p.Pro203del inframe deletion NM_001406545.1:c.703_705del NP_001393474.1:p.Pro235del inframe deletion NM_001406546.1:c.703_705del NP_001393475.1:p.Pro235del inframe deletion NM_001406547.1:c.703_705del NP_001393476.1:p.Pro235del inframe deletion NM_001406548.1:c.703_705del NP_001393477.1:p.Pro235del inframe deletion NC_000013.11:g.51974515_51974517del NC_000013.10:g.52548651_52548653del NG_008806.1:g.41978_41980del - Protein change
- P203del, P235del
- Other names
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- Canonical SPDI
- NC_000013.11:51974514:AGG:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
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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
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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. |
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| ATP7B | - | - |
GRCh38 GRCh37 |
2926 | 3070 | |
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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Jul 11, 2023 | RCV003313017.2 |
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
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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. |
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Uncertain significance
(Jul 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Anhaptoglobinemia
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
Accession: SCV004012076.1
First in ClinVar: Jul 16, 2023 Last updated: Jul 16, 2023 |
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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 this variant ...
HelpRecord last updated Oct 15, 2023
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.