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Point mutation

MedGen UID:: 56498
•Concept ID:: C0162735
•: Cell or Molecular Dysfunction

Synonyms:	Mutation, Point; Mutations, Point; Point Mutation; Point Mutations
SNOMED CT:	Point mutation (471281007)

Definition

A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPoint mutation

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Mutation Abnormality
      - Point mutation
        Activating ERBB2 Point Mutation
        ERBB2 NM_004448.3:c.1963A>G
        ERBB2 NM_004448.3:c.2033G>A
        ERBB2 NM_004448.3:c.2089G>C
        ERBB2 NM_004448.3:c.2089G>T
        ERBB2 NM_004448.3:c.2198C>T
        ERBB2 NM_004448.3:c.2301C>G
        ERBB2 NM_004448.3:c.2305G>A
        ERBB2 NM_004448.3:c.2305G>C
        ERBB2 NM_004448.3:c.2305G>T
        ERBB2 NM_004448.3:c.2317G>A
        ERBB2 NM_004448.3:c.2329G>A
        ERBB2 NM_004448.3:c.2329G>C
        ERBB2 NM_004448.3:c.2329G>T
        ERBB2 NM_004448.3:c.2356C>G
        ERBB2 NM_004448.3:c.2524G>A
        ERBB2 NM_004448.3:c.2606T>G
        ERBB2 NM_004448.3:c.929C>A
        ERBB2 NM_004448.3:c.929C>T
        Activating NTRK Family Point Mutation
        C-KIT Somatic Point Mutation
        FLT3 Juxtamembrane Domain Point Mutation
        FLT3 Tyrosine Kinase Domain Point Mutation
        Nonsense mutation
        EGFR NM_005228.3:c.2125_2129delGAAAC
        NOTCH1 NM_017617.4:c.7396_7397ins5
        NOTCH1 NM_017617.4:c.7396_7397ins8
        NOTCH1 NM_017617.4:c.7399_7400insAGGTTACCC
        NOTCH1 NM_017617.4:c.7507C>T
        PTEN Gene Nonsense Mutation
        PTEN NM_000314.7:c.545T>A
        PTEN NM_000314.7:c.545T>G
        RB1 Gene Nonsense Mutation
        TP53 Gene Nonsense Mutation
        ZRSR2 Gene Nonsense Mutation
        Transition Mutation
        Adenosine to Guanosine Transition Abnormality
        Cytosine to Thymidine Transition Abnormality
        Guanosine to Adenosine Transition Abnormality
        Thymidine to Cytosine Transition Abnormality
        Transversion Mutation
        Adenosine to Cytosine Transversion Abnormality
        Adenosine to Thymidine Transversion Abnormality
        Cytosine to Adenosine Transversion Abnormality
        Cytosine to Guanosine Transversion Abnormality
        Guanosine to Cytosine Transversion Abnormality
        Guanosine to Thymidine Transversion Abnormality
        Thymidine to Adenosine Transversion Abnormality
        Thymidine to Guanosine Transversion Abnormality

Professional guidelines

PubMed

Development of β-globin gene correction in human hematopoietic stem cells as a potential durable treatment for sickle cell disease.

Lattanzi A, Camarena J, Lahiri P, Segal H, Srifa W, Vakulskas CA, Frock RL, Kenrick J, Lee C, Talbott N, Skowronski J, Cromer MK, Charlesworth CT, Bak RO, Mantri S, Bao G, DiGiusto D, Tisdale J, Wright JF, Bhatia N, Roncarolo MG, Dever DP, Porteus MH
Sci Transl Med 2021 Jun 16;13(598) doi: 10.1126/scitranslmed.abf2444. PMID: 34135108 Free PMC Article

Treatment of Brain Metastases of Non-Small Cell Lung Carcinoma.

Rybarczyk-Kasiuchnicz A, Ramlau R, Stencel K
Int J Mol Sci 2021 Jan 8;22(2) doi: 10.3390/ijms22020593. PMID: 33435596 Free PMC Article

Insight into the complex pathophysiology of sickle cell anaemia and possible treatment.

Piccin A, Murphy C, Eakins E, Rondinelli MB, Daves M, Vecchiato C, Wolf D, Mc Mahon C, Smith OP
Eur J Haematol 2019 Apr;102(4):319-330. Epub 2019 Feb 21 doi: 10.1111/ejh.13212. PMID: 30664257

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Recent clinical studies

Etiology

Emerging candidate treatment strategies for Hutchinson-Gilford progeria syndrome.

Strandgren C, Revêchon G, Sola-Carvajal A, Eriksson M
Biochem Soc Trans 2017 Dec 15;45(6):1279-1293. Epub 2017 Nov 10 doi: 10.1042/BST20170141. PMID: 29127216

Structural Modeling of Human Prion Protein's Point Mutations.

Rossetti G, Carloni P
Prog Mol Biol Transl Sci 2017;150:105-122. Epub 2017 Aug 2 doi: 10.1016/bs.pmbts.2017.07.001. PMID: 28838657

Molecular diagnosis of familial hypercholesterolaemia.

Graham CA, Latten MJ, Hart PJ
Curr Opin Lipidol 2017 Aug;28(4):313-320. doi: 10.1097/MOL.0000000000000430. PMID: 28463860

Evolution of Factor V Leiden.

van Mens TE, Levi M, Middeldorp S
Thromb Haemost 2013 Jul;110(1):23-30. Epub 2013 Apr 25 doi: 10.1160/TH13-02-0115. PMID: 23615810

Why does my patient have erythrocytosis?

Kremyanskaya M, Mascarenhas J, Hoffman R
Hematol Oncol Clin North Am 2012 Apr;26(2):267-83, vii-viii. doi: 10.1016/j.hoc.2012.02.011. PMID: 22463827

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Diagnosis

Molecular diagnosis of familial hypercholesterolaemia.

Graham CA, Latten MJ, Hart PJ
Curr Opin Lipidol 2017 Aug;28(4):313-320. doi: 10.1097/MOL.0000000000000430. PMID: 28463860

Eponym: Papillon-Lefevre syndrome.

Dalgıc B, Bukulmez A, Sarı S
Eur J Pediatr 2011 Jun;170(6):689-91. Epub 2010 Dec 17 doi: 10.1007/s00431-010-1367-4. PMID: 21165749

Periodic fever syndromes.

Padeh S
Pediatr Clin North Am 2005 Apr;52(2):577-609, vii. doi: 10.1016/j.pcl.2005.01.005. PMID: 15820380

Friedreich's ataxia.

Alper G, Narayanan V
Pediatr Neurol 2003 May;28(5):335-41. doi: 10.1016/s0887-8994(03)00004-3. PMID: 12878293

Friedreich's ataxia.

Pilch J, Jamroz E, Marszał E
J Child Neurol 2002 May;17(5):315-9. doi: 10.1177/088307380201700501. PMID: 12150575

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Therapy

Gene therapy for sickle cell disease: moving from the bench to the bedside.

Abraham AA, Tisdale JF
Blood 2021 Sep 16;138(11):932-941. doi: 10.1182/blood.2019003776. PMID: 34232993 Free PMC Article

FLT3 mutations in acute myeloid leukemia: Therapeutic paradigm beyond inhibitor development.

Kiyoi H, Kawashima N, Ishikawa Y
Cancer Sci 2020 Feb;111(2):312-322. Epub 2019 Dec 30 doi: 10.1111/cas.14274. PMID: 31821677 Free PMC Article

Rare epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer.

Harrison PT, Vyse S, Huang PH
Semin Cancer Biol 2020 Apr;61:167-179. Epub 2019 Sep 25 doi: 10.1016/j.semcancer.2019.09.015. PMID: 31562956 Free PMC Article

Insight into the complex pathophysiology of sickle cell anaemia and possible treatment.

Piccin A, Murphy C, Eakins E, Rondinelli MB, Daves M, Vecchiato C, Wolf D, Mc Mahon C, Smith OP
Eur J Haematol 2019 Apr;102(4):319-330. Epub 2019 Feb 21 doi: 10.1111/ejh.13212. PMID: 30664257

FGF receptors: cancer biology and therapeutics.

Katoh M, Nakagama H
Med Res Rev 2014 Mar;34(2):280-300. Epub 2013 May 21 doi: 10.1002/med.21288. PMID: 23696246

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Prognosis

Prognostic Value of RUNX1 Mutations in AML: A Meta-Analysis.

Jalili M, Yaghmaie M, Ahmadvand M, Alimoghaddam K, Mousavi SA, Vaezi M, Ghavamzadeh A
Asian Pac J Cancer Prev 2018 Feb 26;19(2):325-329. doi: 10.22034/APJCP.2018.19.2.325. PMID: 29479958 Free PMC Article

Uncommon EGFR mutations in advanced non-small cell lung cancer.

O'Kane GM, Bradbury PA, Feld R, Leighl NB, Liu G, Pisters KM, Kamel-Reid S, Tsao MS, Shepherd FA
Lung Cancer 2017 Jul;109:137-144. Epub 2017 Apr 27 doi: 10.1016/j.lungcan.2017.04.016. PMID: 28577943

Tissue-specific mutation accumulation in human adult stem cells during life.

Blokzijl F, de Ligt J, Jager M, Sasselli V, Roerink S, Sasaki N, Huch M, Boymans S, Kuijk E, Prins P, Nijman IJ, Martincorena I, Mokry M, Wiegerinck CL, Middendorp S, Sato T, Schwank G, Nieuwenhuis EE, Verstegen MM, van der Laan LJ, de Jonge J, IJzermans JN, Vries RG, van de Wetering M, Stratton MR, Clevers H, Cuppen E, van Boxtel R
Nature 2016 Oct 13;538(7624):260-264. Epub 2016 Oct 3 doi: 10.1038/nature19768. PMID: 27698416 Free PMC Article

HFE-associated hereditary hemochromatosis.

Eijkelkamp EJ, Yapp TR, Powell LW
Can J Gastroenterol 2000 Feb;14(2):121-5. doi: 10.1155/2000/360372. PMID: 10694284

Duchenne muscular dystrophy.

Matsuo M
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Clinical prediction guides

Review of the endothelial pathogenic mechanism of TIE2-related venous malformation.

Du Z, Zheng J, Zhang Z, Wang Y
J Vasc Surg Venous Lymphat Disord 2017 Sep;5(5):740-748. Epub 2017 May 16 doi: 10.1016/j.jvsv.2017.05.001. PMID: 28818232

Molecular diagnosis of familial hypercholesterolaemia.

Graham CA, Latten MJ, Hart PJ
Curr Opin Lipidol 2017 Aug;28(4):313-320. doi: 10.1097/MOL.0000000000000430. PMID: 28463860

The Y-chromosome point mutation rate in humans.

Helgason A, Einarsson AW, Guðmundsdóttir VB, Sigurðsson Á, Gunnarsdóttir ED, Jagadeesan A, Ebenesersdóttir SS, Kong A, Stefánsson K
Nat Genet 2015 May;47(5):453-7. Epub 2015 Mar 25 doi: 10.1038/ng.3171. PMID: 25807285

Clinical impact of molecular biomarkers in gliomas.

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More than just kinases: the scaffolding function of PI3K.

Costa C, Hirsch E
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Recent systematic reviews

The predictive role of ERBB2 point mutations in metastatic colorectal cancer: A systematic review.

Vaghi C, Mauri G, Agostara AG, Patelli G, Pizzutilo EG, Nakamura Y, Yoshino T, Siena S, Sartore-Bianchi A
Cancer Treat Rev 2023 Jan;112:102488. Epub 2022 Nov 11 doi: 10.1016/j.ctrv.2022.102488. PMID: 36410093

Global prevalence of resistance to macrolides in Mycoplasma pneumoniae: a systematic review and meta-analysis.

Wang G, Wu P, Tang R, Zhang W
J Antimicrob Chemother 2022 Aug 25;77(9):2353-2363. doi: 10.1093/jac/dkac170. PMID: 35678262

Drug treatment for spinal muscular atrophy types II and III.

Wadman RI, van der Pol WL, Bosboom WM, Asselman FL, van den Berg LH, Iannaccone ST, Vrancken AF
Cochrane Database Syst Rev 2020 Jan 6;1(1):CD006282. doi: 10.1002/14651858.CD006282.pub5. PMID: 32006461 Free PMC Article

Erdheim-Chester disease: a systematic review.

Cives M, Simone V, Rizzo FM, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, Silvestris F, Dammacco F
Crit Rev Oncol Hematol 2015 Jul;95(1):1-11. Epub 2015 Feb 17 doi: 10.1016/j.critrevonc.2015.02.004. PMID: 25744785

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

Hellebrekers DM, Wolfe R, Hendrickx AT, de Coo IF, de Die CE, Geraedts JP, Chinnery PF, Smeets HJ
Hum Reprod Update 2012 Jul;18(4):341-9. Epub 2012 Mar 28 doi: 10.1093/humupd/dms008. PMID: 22456975

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Point mutation

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

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