ClinVar Genomic variation as it relates to human health
NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val)
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_004448.4(ERBB2):c.1963A>G (p.Ile655Val)
Variation ID: 13873 Accession: VCV000013873.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q12 17: 39723335 (GRCh38) [ NCBI UCSC ] 17: 37879588 (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 Apr 4, 2013 Feb 20, 2024 Feb 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004448.4:c.1963A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004439.2:p.Ile655Val missense NM_001005862.3:c.1873A>G NP_001005862.1:p.Ile625Val missense NM_001289936.2:c.1918A>G NP_001276865.1:p.Ile640Val missense NM_001289937.2:c.1963A>G NP_001276866.1:p.Ile655Val missense NM_001382782.1:c.1873A>G NP_001369711.1:p.Ile625Val missense NM_001382783.1:c.1873A>G NP_001369712.1:p.Ile625Val missense NM_001382784.1:c.2080A>G NP_001369713.1:p.Ile694Val missense NM_001382785.1:c.2065A>G NP_001369714.1:p.Ile689Val missense NM_001382786.1:c.2080A>G NP_001369715.1:p.Ile694Val missense NM_001382787.1:c.2038A>G NP_001369716.1:p.Ile680Val missense NM_001382788.1:c.1993A>G NP_001369717.1:p.Ile665Val missense NM_001382789.1:c.1984A>G NP_001369718.1:p.Ile662Val missense NM_001382790.1:c.1960A>G NP_001369719.1:p.Ile654Val missense NM_001382791.1:c.1954A>G NP_001369720.1:p.Ile652Val missense NM_001382792.1:c.1963A>G NP_001369721.1:p.Ile655Val missense NM_001382793.1:c.1963A>G NP_001369722.1:p.Ile655Val missense NM_001382794.1:c.1963A>G NP_001369723.1:p.Ile655Val missense NM_001382795.1:c.1915A>G NP_001369724.1:p.Ile639Val missense NM_001382796.1:c.1963A>G NP_001369725.1:p.Ile655Val missense NM_001382797.1:c.1963A>G NP_001369726.1:p.Ile655Val missense NM_001382798.1:c.1963A>G NP_001369727.1:p.Ile655Val missense NM_001382799.1:c.1783A>G NP_001369728.1:p.Ile595Val missense NM_001382800.1:c.1963A>G NP_001369729.1:p.Ile655Val missense NM_001382801.1:c.1915A>G NP_001369730.1:p.Ile639Val missense NM_001382802.1:c.1705A>G NP_001369731.1:p.Ile569Val missense NM_001382803.1:c.1963A>G NP_001369732.1:p.Ile655Val missense NM_001382804.1:c.1135A>G NP_001369733.1:p.Ile379Val missense NM_001382805.1:c.1963A>G NP_001369734.1:p.Ile655Val missense NM_001382806.1:c.1223-629A>G intron variant NR_110535.2:n.2201A>G non-coding transcript variant NC_000017.11:g.39723335A>G NC_000017.10:g.37879588A>G NG_007503.1:g.40196A>G LRG_724:g.40196A>G LRG_724t4:c.1918A>G - Protein change
- I655V, I625V, I640V, I379V, I569V, I595V, I639V, I652V, I654V, I662V, I665V, I680V, I689V, I694V
- Other names
- V655I
- Canonical SPDI
- NC_000017.11:39723334:A:G
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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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0.12141 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.11977
1000 Genomes Project 0.12141
Trans-Omics for Precision Medicine (TOPMed) 0.15571
The Genome Aggregation Database (gnomAD) 0.17488
Exome Aggregation Consortium (ExAC) 0.19636
The Genome Aggregation Database (gnomAD), exomes 0.19636
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 | ||
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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
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. |
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ERBB2 | - | - |
GRCh38 GRCh37 |
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Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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. |
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ERBB2 POLYMORPHISM
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Benign (1) |
no assertion criteria provided
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Feb 1, 1993 | RCV000014887.2 |
not provided (1) |
no classification provided
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Sep 19, 2013 | RCV000120744.1 | |
Benign (1) |
criteria provided, single submitter
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Feb 1, 2024 | RCV001511302.6 |
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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Benign
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001718523.4
First in ClinVar: Jun 15, 2021 Last updated: Feb 20, 2024 |
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Benign
(Feb 01, 1993)
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no assertion criteria provided
Method: literature only
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ERBB2 POLYMORPHISM
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000035142.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
The sequences of human ERBB2 cDNA clones reported by Yamamoto et al. (1986) and Coussens et al. (1985) differed at codon 655, which encoded isoleucine … (more)
The sequences of human ERBB2 cDNA clones reported by Yamamoto et al. (1986) and Coussens et al. (1985) differed at codon 655, which encoded isoleucine or valine, respectively. Papewalis et al. (1991) and Ehsani et al. (1993) described a G-to-A polymorphism in codon 655 responsible for this variation between GTC and ATC. See 164870.0002. (less)
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
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ITMI
Accession: SCV000084907.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
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Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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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
HelpText-mined citations for rs1136201 ...
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.