ClinVar Genomic variation as it relates to human health
NM_000053.4(ATP7B):c.1155_1156del (p.Val387fs)
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.1155_1156del (p.Val387fs)
Variation ID: 2679788 Accession: VCV002679788.2
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 13q14.3 13: 51974064-51974065 (GRCh38) [ NCBI UCSC ] 13: 52548200-52548201 (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 Dec 30, 2023 Jun 17, 2024 Mar 7, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000053.4:c.1155_1156del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000044.2:p.Val387fs frameshift NM_001005918.3:c.1155_1156del NP_001005918.1:p.Val387fs frameshift NM_001243182.2:c.822_823del NP_001230111.1:p.Val276fs frameshift NM_001330578.2:c.1155_1156del NP_001317507.1:p.Val387fs frameshift NM_001330579.2:c.1155_1156del NP_001317508.1:p.Val387fs frameshift NM_001406511.1:c.1155_1156del NP_001393440.1:p.Val387fs frameshift NM_001406512.1:c.1155_1156del NP_001393441.1:p.Val387fs frameshift NM_001406513.1:c.1155_1156del NP_001393442.1:p.Val387fs frameshift NM_001406514.1:c.1155_1156del NP_001393443.1:p.Val387fs frameshift NM_001406515.1:c.1155_1156del NP_001393444.1:p.Val387fs frameshift NM_001406516.1:c.1155_1156del NP_001393445.1:p.Val387fs frameshift NM_001406517.1:c.1059_1060del NP_001393446.1:p.Val355fs frameshift NM_001406518.1:c.1059_1060del NP_001393447.1:p.Val355fs frameshift NM_001406519.1:c.1155_1156del NP_001393448.1:p.Val387fs frameshift NM_001406520.1:c.1155_1156del NP_001393449.1:p.Val387fs frameshift NM_001406521.1:c.1155_1156del NP_001393450.1:p.Val387fs frameshift NM_001406522.1:c.1155_1156del NP_001393451.1:p.Val387fs frameshift NM_001406523.1:c.1155_1156del NP_001393452.1:p.Val387fs frameshift NM_001406524.1:c.1155_1156del NP_001393453.1:p.Val387fs frameshift NM_001406525.1:c.1155_1156del NP_001393454.1:p.Val387fs frameshift NM_001406526.1:c.1155_1156del NP_001393455.1:p.Val387fs frameshift NM_001406527.1:c.1155_1156del NP_001393456.1:p.Val387fs frameshift NM_001406528.1:c.1155_1156del NP_001393457.1:p.Val387fs frameshift NM_001406530.1:c.1059_1060del NP_001393459.1:p.Val355fs frameshift NM_001406531.1:c.1155_1156del NP_001393460.1:p.Val387fs frameshift NM_001406532.1:c.1155_1156del NP_001393461.1:p.Val387fs frameshift NM_001406534.1:c.1155_1156del NP_001393463.1:p.Val387fs frameshift NM_001406535.1:c.1155_1156del NP_001393464.1:p.Val387fs frameshift NM_001406536.1:c.1059_1060del NP_001393465.1:p.Val355fs frameshift NM_001406537.1:c.1155_1156del NP_001393466.1:p.Val387fs frameshift NM_001406538.1:c.1155_1156del NP_001393467.1:p.Val387fs frameshift NM_001406539.1:c.726_727del NP_001393468.1:p.Val244fs frameshift NM_001406540.1:c.1155_1156del NP_001393469.1:p.Val387fs frameshift NM_001406541.1:c.1155_1156del NP_001393470.1:p.Val387fs frameshift NM_001406542.1:c.1155_1156del NP_001393471.1:p.Val387fs frameshift NM_001406543.1:c.1059_1060del NP_001393472.1:p.Val355fs frameshift NM_001406544.1:c.1059_1060del NP_001393473.1:p.Val355fs frameshift NM_001406545.1:c.1155_1156del NP_001393474.1:p.Val387fs frameshift NM_001406546.1:c.1155_1156del NP_001393475.1:p.Val387fs frameshift NM_001406547.1:c.1155_1156del NP_001393476.1:p.Val387fs frameshift NM_001406548.1:c.1155_1156del NP_001393477.1:p.Val387fs frameshift NC_000013.11:g.51974064_51974065del NC_000013.10:g.52548200_52548201del NG_008806.1:g.42430_42431del - Protein change
- V244fs, V276fs, V355fs, V387fs
- Other names
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- Canonical SPDI
- NC_000013.11:51974063:CT:
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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
Help
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
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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 |
2916 | 3060 | |
Conditions - Germline
| Condition
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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. |
|---|---|---|---|---|
| Likely pathogenic (1) |
criteria provided, single submitter
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Mar 7, 2024 | RCV003464926.2 |
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
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. |
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Likely pathogenic
(Mar 07, 2024)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004216295.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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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 Jun 17, 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.