ClinVar Genomic variation as it relates to human health
NM_004448.4(ERBB2):c.3620C>T (p.Pro1207Leu)
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.3620C>T (p.Pro1207Leu)
Variation ID: 134083 Accession: VCV000134083.6
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q12 17: 39727896 (GRCh38) [ NCBI UCSC ] 17: 37884149 (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 Jun 9, 2014 Feb 20, 2024 Jun 24, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004448.4:c.3620C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004439.2:p.Pro1207Leu missense NM_001005862.3:c.3530C>T NP_001005862.1:p.Pro1177Leu missense NM_001289936.2:c.3575C>T NP_001276865.1:p.Pro1192Leu missense NM_001289937.2:c.*199C>T 3 prime UTR NM_001382782.1:c.3530C>T NP_001369711.1:p.Pro1177Leu missense NM_001382783.1:c.3530C>T NP_001369712.1:p.Pro1177Leu missense NM_001382784.1:c.3737C>T NP_001369713.1:p.Pro1246Leu missense NM_001382785.1:c.3722C>T NP_001369714.1:p.Pro1241Leu missense NM_001382786.1:c.3701C>T NP_001369715.1:p.Pro1234Leu missense NM_001382787.1:c.3695C>T NP_001369716.1:p.Pro1232Leu missense NM_001382788.1:c.3650C>T NP_001369717.1:p.Pro1217Leu missense NM_001382789.1:c.3641C>T NP_001369718.1:p.Pro1214Leu missense NM_001382790.1:c.3617C>T NP_001369719.1:p.Pro1206Leu missense NM_001382791.1:c.3611C>T NP_001369720.1:p.Pro1204Leu missense NM_001382792.1:c.3584C>T NP_001369721.1:p.Pro1195Leu missense NM_001382793.1:c.3578C>T NP_001369722.1:p.Pro1193Leu missense NM_001382794.1:c.3578C>T NP_001369723.1:p.Pro1193Leu missense NM_001382795.1:c.3572C>T NP_001369724.1:p.Pro1191Leu missense NM_001382796.1:c.3533C>T NP_001369725.1:p.Pro1178Leu missense NM_001382797.1:c.3521C>T NP_001369726.1:p.Pro1174Leu missense NM_001382798.1:c.3464C>T NP_001369727.1:p.Pro1155Leu missense NM_001382799.1:c.3440C>T NP_001369728.1:p.Pro1147Leu missense NM_001382800.1:c.3434C>T NP_001369729.1:p.Pro1145Leu missense NM_001382801.1:c.3416C>T NP_001369730.1:p.Pro1139Leu missense NM_001382802.1:c.3362C>T NP_001369731.1:p.Pro1121Leu missense NM_001382803.1:c.*199C>T 3 prime UTR NM_001382804.1:c.2792C>T NP_001369733.1:p.Pro931Leu missense NM_001382805.1:c.2669C>T NP_001369734.1:p.Pro890Leu missense NM_001382806.1:c.2582C>T NP_001369735.1:p.Pro861Leu missense NR_110535.2:n.3858C>T non-coding transcript variant NC_000017.11:g.39727896C>T NC_000017.10:g.37884149C>T NG_007503.1:g.44757C>T LRG_724:g.44757C>T - Protein change
- P1177L, P1207L, P1192L, P1121L, P1139L, P1145L, P1147L, P1155L, P1174L, P1178L, P1191L, P1193L, P1195L, P1204L, P1206L, P1214L, P1217L, P1232L, P1234L, P1241L, P1246L, P861L, P890L, P931L
- Other names
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- Canonical SPDI
- NC_000017.11:39727895:C:T
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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
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00007
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
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
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. |
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ERBB2 | - | - |
GRCh38 GRCh37 |
679 | 693 |
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. |
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not provided (1) |
no classification provided
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Sep 19, 2013 | RCV000120754.1 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jun 24, 2022 | RCV001854611.6 |
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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Uncertain significance
(Jun 24, 2022)
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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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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002200066.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 134083). This variant has not been reported in the literature in individuals affected with ERBB2-related conditions. This variant is present in population databases (rs145772320, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1207 of the ERBB2 protein (p.Pro1207Leu). (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: SCV000084918.1
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
HelpThere 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 rs145772320 ...
HelpRecord last updated Sep 29, 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.