"Germ-Line Mutation" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
| Descriptor ID |
D018095
|
| MeSH Number(s) |
G05.365.590.350
|
| Concept/Terms |
Germ-Line Mutation- Germ-Line Mutation
- Germ Line Mutation
- Germline Mutation
- Germline Mutations
- Mutation, Germline
- Mutations, Germline
- Mutation, Germ-Line
- Germ-Line Mutations
- Mutation, Germ Line
- Mutations, Germ-Line
|
Below are MeSH descriptors whose meaning is more general than "Germ-Line Mutation".
Below are MeSH descriptors whose meaning is more specific than "Germ-Line Mutation".
This graph shows the total number of publications written about "Germ-Line Mutation" by people in this website by year, and whether "Germ-Line Mutation" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2014 | 0 | 1 | 1 |
| 2017 | 0 | 2 | 2 |
| 2018 | 0 | 1 | 1 |
| 2019 | 0 | 4 | 4 |
| 2020 | 3 | 0 | 3 |
| 2021 | 3 | 3 | 6 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 2 | 2 |
| 2024 | 1 | 0 | 1 |
| 2025 | 2 | 1 | 3 |
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Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants. Am J Hum Genet. 2025 Oct 02; 112(10):2266-2280.
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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. Genet Med. 2025 Nov; 27(11):101565.
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Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast. Clin Cancer Res. 2025 Jan 06; 31(1):130-138.
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. Am J Hum Genet. 2024 Nov 07; 111(11):2411-2426.
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CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources. J Med Genet. 2023 11 27; 60(12):1215-1217.
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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genet Med. 2024 02; 26(2):100992.
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Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. J Med Genet. 2023 06; 60(6):568-575.
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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genet Med. 2022 01; 24(1):41-50.
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Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genet Med. 2022 03; 24(3):673-680.
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Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities. Genes (Basel). 2021 11 16; 12(11).